The spectrum of retiform pigmentary disorders encompasses the
rare Dowling-Degos Disease (DDD) with its acantholytic variant Morbus Galli-Galli (MGG), Epidermolysis Bullosa Simplex
with Mottled Pigmentation (ESMP), reticulate acro pigmentation of Kitamura, dyschromatosis symmetrica hereditaria, and
Darier’s disease Muller et al. [1]. Interestingly, mutations in the
KRT5gene(encoding keratin 5) have been found to correspond
with certain clinical dyschromic phenotypes Hanneken et al. [2].
Wide spread reticulated hyper pigmentation with skin fragility;
blistering and progressive palmo-plantar hyperkeratosis has been
linked to p.Pro25Leumutation in ESMP Rugg et al. [3]. Acral reticulated hyper pigmentation, palmar pits and breaks in dermatoglyphsis the typical clinical picture of Kitamura’s reticulate acro
pigmentation, also linked to mutation in the KRT5 gene Griffiths
et al. [4]. Since 2006, the mutation c.418dupA was identified in
patients with DDD, presented with reticulated hyper pigmentation mainly in flexures, perioral pitted scars, and come do-like
papules on face and neck Betz et al
This document describes a case report of a 35-year-old female patient presenting with Darier disease. Darier disease is a rare autosomal dominant genoderatosis caused by mutations in the ATP2A2 gene. Clinically, it presents with hyperkeratotic papules in seborrheic areas and nail abnormalities. Histologically, it shows suprabasal clefts with acantholytic and dyskeratotic cells. The patient presented with lesions on the head, neck, trunk and extremities consistent with Darier disease, along with nail abnormalities. A biopsy was taken and microscopic findings were consistent with the diagnosis.
This document discusses the history and regulation of the drug thalidomide. It notes that thalidomide was discovered in the 1960s to cause birth defects but has continued to be studied to treat other conditions. In 1998, the FDA approved thalidomide under the brand name Thalomid to treat erythemanodosumleprosum, a complication of leprosy. Due to the risks of birth defects, the FDA took steps to strictly control the drug's use, distribution, and monitoring of patients, especially women of childbearing age, to prevent another public health issue. Research into thalidomide's use for other diseases continues.
ETAS_MCQ_10 manifestations of systemic diseases1Derma202
The document provides information about various systemic diseases and their cutaneous manifestations:
- Neurofibromatosis type 1 can cause kyphoscoliosis, pseudoarthrosis, lordosis, and spina bifida but not monoarticular arthropathy.
- Candida albicans causes erosio interdigitalis blastomycetica.
- Erythema gyratum repens is associated with various malignancies except gastric carcinoma.
- Eruptive xanthomas are associated with familial hyperlipidemias types I, IV and V and high triglyceride levels.
- Paraneoplastic pemphigus is associated with various tumors except lung carcinoma.
Significance of vascular endothelial growth factor and CD31 and morphometric analysis of microvessel density by CD31 receptor expression as an adjuvant tool in diagnosis of psoriatic lesions of skin
Significance of vascular endothelial growth factor and CD31 and morphometric analysis of microvessel density by CD31 receptor expression as an adjuvant tool in diagnosis of psoriatic lesions of skin
This document describes a case report of a 62-year-old female patient who presented with an asymptomatic growth on her left ear for one and a half years. The growth was diagnosed as a seborrhoeic keratosis based on its clinical features and confirmed by histopathological examination. Seborrhoeic keratosis is a benign skin tumor that commonly affects elderly people and presents as a pigmented verrucous plaque. While typically cosmetic, it can sometimes cause functional impairment or itching. Histological examination revealed features consistent with seborrhoeic keratosis such as hyperkeratosis, papillomatosis, and melanin pigment.
Ritter’s disease which is medically known as Staphylococcal Scalded Skin Syndrome SSSS , is a skin condition induced by exfoliative toxins produced by group II coagulase positive staphylococci. This disease is most common in children and neonates which has high chances to be fatal if treatment is not initiated as early as possible. In this report, a case of a 2 year old child is being presented, who came with the complaints of erythematous lesions over lower jaw and neck for four days after which the lesions progressed to the right eye. The lesions were associated with peeling of skin indicating positive Nikolsky’s sign. Based on clinical examinations a diagnosis of Staphylococcal Scalded Skin Syndrome was established. The patient responded favorably to the treatment which included i.v. antibiotics ampicillin and cloxacillin , analgesics syrup Paracetamol and other supportive measures. Patient was discharged after six days on complete resolution of symptoms. Riya Antony | Neethu P. Rajeev "Ritter’s Disease in Child – A Case Report" Published in International Journal of Trend in Scientific Research and Development (ijtsrd), ISSN: 2456-6470, Volume-4 | Issue-6 , October 2020, URL: https://www.ijtsrd.com/papers/ijtsrd35723.pdf Paper Url: https://www.ijtsrd.com/pharmacy/other/35723/ritter’s-disease-in-child-–-a-case-report/riya-antony
Abstract:
Xeroderma pigmentosum with squamous cell carcinoma of skin has been
infreqently reported .Is a rare autosomal recessive disease characterized by defective
DNA repair. . A seven year old boy having xeroderma pigmentosa presented with
extensive ulceration of the face . On investigation, the ulceration was found to be
squamous cell carcinoma. The details of the case are presented and its pathological
findings are discussed
This document describes a case report of a 35-year-old female patient presenting with Darier disease. Darier disease is a rare autosomal dominant genoderatosis caused by mutations in the ATP2A2 gene. Clinically, it presents with hyperkeratotic papules in seborrheic areas and nail abnormalities. Histologically, it shows suprabasal clefts with acantholytic and dyskeratotic cells. The patient presented with lesions on the head, neck, trunk and extremities consistent with Darier disease, along with nail abnormalities. A biopsy was taken and microscopic findings were consistent with the diagnosis.
This document discusses the history and regulation of the drug thalidomide. It notes that thalidomide was discovered in the 1960s to cause birth defects but has continued to be studied to treat other conditions. In 1998, the FDA approved thalidomide under the brand name Thalomid to treat erythemanodosumleprosum, a complication of leprosy. Due to the risks of birth defects, the FDA took steps to strictly control the drug's use, distribution, and monitoring of patients, especially women of childbearing age, to prevent another public health issue. Research into thalidomide's use for other diseases continues.
ETAS_MCQ_10 manifestations of systemic diseases1Derma202
The document provides information about various systemic diseases and their cutaneous manifestations:
- Neurofibromatosis type 1 can cause kyphoscoliosis, pseudoarthrosis, lordosis, and spina bifida but not monoarticular arthropathy.
- Candida albicans causes erosio interdigitalis blastomycetica.
- Erythema gyratum repens is associated with various malignancies except gastric carcinoma.
- Eruptive xanthomas are associated with familial hyperlipidemias types I, IV and V and high triglyceride levels.
- Paraneoplastic pemphigus is associated with various tumors except lung carcinoma.
Significance of vascular endothelial growth factor and CD31 and morphometric analysis of microvessel density by CD31 receptor expression as an adjuvant tool in diagnosis of psoriatic lesions of skin
Significance of vascular endothelial growth factor and CD31 and morphometric analysis of microvessel density by CD31 receptor expression as an adjuvant tool in diagnosis of psoriatic lesions of skin
This document describes a case report of a 62-year-old female patient who presented with an asymptomatic growth on her left ear for one and a half years. The growth was diagnosed as a seborrhoeic keratosis based on its clinical features and confirmed by histopathological examination. Seborrhoeic keratosis is a benign skin tumor that commonly affects elderly people and presents as a pigmented verrucous plaque. While typically cosmetic, it can sometimes cause functional impairment or itching. Histological examination revealed features consistent with seborrhoeic keratosis such as hyperkeratosis, papillomatosis, and melanin pigment.
Ritter’s disease which is medically known as Staphylococcal Scalded Skin Syndrome SSSS , is a skin condition induced by exfoliative toxins produced by group II coagulase positive staphylococci. This disease is most common in children and neonates which has high chances to be fatal if treatment is not initiated as early as possible. In this report, a case of a 2 year old child is being presented, who came with the complaints of erythematous lesions over lower jaw and neck for four days after which the lesions progressed to the right eye. The lesions were associated with peeling of skin indicating positive Nikolsky’s sign. Based on clinical examinations a diagnosis of Staphylococcal Scalded Skin Syndrome was established. The patient responded favorably to the treatment which included i.v. antibiotics ampicillin and cloxacillin , analgesics syrup Paracetamol and other supportive measures. Patient was discharged after six days on complete resolution of symptoms. Riya Antony | Neethu P. Rajeev "Ritter’s Disease in Child – A Case Report" Published in International Journal of Trend in Scientific Research and Development (ijtsrd), ISSN: 2456-6470, Volume-4 | Issue-6 , October 2020, URL: https://www.ijtsrd.com/papers/ijtsrd35723.pdf Paper Url: https://www.ijtsrd.com/pharmacy/other/35723/ritter’s-disease-in-child-–-a-case-report/riya-antony
Abstract:
Xeroderma pigmentosum with squamous cell carcinoma of skin has been
infreqently reported .Is a rare autosomal recessive disease characterized by defective
DNA repair. . A seven year old boy having xeroderma pigmentosa presented with
extensive ulceration of the face . On investigation, the ulceration was found to be
squamous cell carcinoma. The details of the case are presented and its pathological
findings are discussed
A 5-year-old child presented with inactivity, difficulty gaining weight, and pallor. The child's relative has a "blood illness". On examination, the child was underweight and pale. Hb electrophoresis found elevated HBA2, consistent with beta thalassemia minor.
This case report describes a 74-year-old male patient diagnosed with Gorlin-Goltz syndrome based on presenting with over 50 basal cell carcinomas on his face, chest, and back as well as a family history of similar lesions in his brother. Gorlin-Goltz syndrome is a rare autosomal dominant disorder characterized by basal cell carcinomas, jaw cysts, and skeletal abnormalities caused by mutations in the PTCH gene. The patient underwent surgical excision of basal cell carcinomas on his face. Regular screening was recommended due to risks of additional cancers and basal cell carcinomas associated with this syndrome.
Mucocutaneous Involvement in Behcets Diseasenavasreni
Behçet’s disease is a chronic inflammatory disease characterized by its clinical polymorphism associating mucocutaneous involvement to systemic manifestations. The mucocutaneous lesions are considered the hallmark of the disease, being the most common symptoms presenting at the onset of disease. Our objective was to determine the characteristics of this skin involvement during Behçet’s disease. We conducted a descriptive study over a period of 30 years, having collected all patients with Behçet’s disease.
Mucocutaneous Involvement in Behcets Diseasepateldrona
This document summarizes a study on mucocutaneous involvement in Behcet's disease. The study analyzed 98 patients over 30 years. All patients showed mucocutaneous lesions. Oral aphthosis was present in all patients, and genital ulcers were seen in 81% of patients. Other common lesions included pseudofolliculitis in 61% of patients and erythema nodosum in 7% of patients. All patients were treated with colchicine, while some severe cases also received corticosteroids or immunosuppressants. The main findings were that mucocutaneous lesions are very common in Behcet's disease, especially oral aphthosis and genital ul
Mucocutaneous Involvement in Behcets Diseasekomalicarol
Behçet's disease is a chronic inflammatory disease characterized by
its clinical polymorphism associating mucocutaneous involvement
to systemic manifestations. The mucocutaneous lesions are
considered the hallmark of the disease, being the most common
symptoms presenting at the onset of disease. Our objective was
to determine the characteristics of this skin involvement during
Behçet's disease. We conducted a descriptive study over a period
of 30 years, having collected all patients with Behçet's disease.
These were 98 patients. A male predominance was observed in
our studied population with a Sex Ratio of 2.5. The mean age at
diagnosis was 34 years. Mucocutaneous involvement was observed
in all patients. Oral aphthosis was constant and genital ulcers, were
observed in 81 cases. The other mucocutaneous manifestations
were: pseudofolliculitis (61 cases), erythema nodosum (7 cases),
skin ulcers (4 cases), acneiform lesions (2 cases), perianal ulcers (1
case), skin ulceration (1 case) and erythema multiforme. (1 case).
All of our patients were treated with colchicine. Corticosteroids
and non-steroidal anti-inflammatory drugs were each indicated in
one case for resistant forms
Mucocutaneous Involvement in Behcets Diseasesemualkaira
Behçet's disease is a chronic inflammatory disease characterized by
its clinical polymorphism associating mucocutaneous involvement
to systemic manifestations. The mucocutaneous lesions are
considered the hallmark of the disease, being the most common
symptoms presenting at the onset of disease. Our objective was
to determine the characteristics of this skin involvement during
Behçet's disease. We conducted a descriptive study over a period
of 30 years, having collected all patients with Behçet's disease.
These were 98 patients. A male predominance was observed in
our studied population with a Sex Ratio of 2.5. The mean age at
diagnosis was 34 years. Mucocutaneous involvement was observed
in all patients. Oral aphthosis was constant and genital ulcers, were
observed in 81 cases. The other mucocutaneous manifestations
were: pseudofolliculitis (61 cases), erythema nodosum (7 cases),
skin ulcers (4 cases), acneiform lesions (2 cases), perianal ulcers (1
case), skin ulceration (1 case) and erythema multiforme. (1 case).
All of our patients were treated with colchicine. Corticosteroids
and non-steroidal anti-inflammatory drugs were each indicated in
one case for resistant forms.
Managment Of Long Term Care In Era Covid-19komalicarol
COVID-19 gives the chance to address long-term care categories
that are sometimes disregarded and undervalued, such as nursing
and residential homes, as well as homecare. Each method of delivering long-term care must meet the highest possible standards
of ongoing care and quality of life. More study and evaluation are
needed to aid decision-making and policy-making, particularly on
the cost-effectiveness and cost-quality elements for each country,
region, or system.
Renal failure and Quality ofLlife Indicators in Kidney Transplantationkomalicarol
This article discusses quality of life indicators for patients undergoing kidney transplantation. It reviews several tools used to measure quality of life, including the SF-36, EQ-5D, and KDQOL questionnaires. Overall quality of life is generally improved after a successful kidney transplant compared to dialysis. However, factors like side effects of immunosuppressive drugs and the risk of rejection can still impact quality of life. The article concludes that while transplantation is associated with lower mortality and better quality of life than long-term dialysis, certain patient and treatment factors must be considered when evaluating individual quality of life outcomes.
A case of childhood Burkitt's lymphoma with gingival swelling as the first sy...komalicarol
This case report describes a 4-year-old child who presented with gingival swelling as the initial symptom of Burkitt's lymphoma. The child was eventually diagnosed with stage IV Burkitt's lymphoma/leukemia based on bone marrow and genetic testing. After initial chemotherapy, the gingival swelling and right cheek swelling recurred, indicating disease recurrence. The child received further chemotherapy but ultimately passed away half a year later. This case highlights that gingival swelling can be an early oral symptom of systemic disease like Burkitt's lymphoma. Dentists and oral physicians play an important role in identifying signs of systemic conditions through oral examinations.
Neuropsychiatric Profiles of Brivaracetam: A Literature Reviewkomalicarol
Anti-seizure medications (ASMs) can cause cognitive or behavioral adverse drug reactions, which is a significant consideration
when selecting an appropriate ASM. Brivaracetam (BRV) is a
newer synaptic vesicle protein 2A ligand, which is expected to
have less neuropsychiatric adverse effects due to its mechanism of
action. To understand the impact of BRV on cognition and behavior compared with other ASMs, we conducted literatures searching
from PubMed and MEDLINE databases. After the screening process, a total of two animal studies, one randomized controlled trial, one pooled-analysis of clinical trials, one controlled study and
nine observational studies were included. Animal studies showed
that BRV did not worsen cognition or behavior performance in rodents. Human studies showed that BRV had less cognitive adverse
events compared with other second or third generation ASMs. In
addition, currently available evidence suggests that behavioral disturbance is less common with BRV compared with levetiracetam.
This review revealed that BRV has a limited impact on cognition
and behavior. For patients who are intolerant to levetiracetam
and have levetiracetam-related behavioral side effects, switching
to BRV could be beneficial. However, the heterogeneity between
studies makes the quality of the evidence weak and further trials
are needed to confirm the findings.
Clinical and evolutionary features of SARS CoV-2 infection (COVID-19) in chil...komalicarol
Starting with December 2019 the medical world has faced a
new challenge as a consequence of a new type of coronavirus-2019-nCoV, similar to several familiar strains that determine
a comparable symptomatology (SARS- severe acute respiratory syndrome, MERS- Middle East severe acute respiratory syndrome), subsequently named SARS CoV-2, while the disease it
causes- COVID-19. The virus is of animal origin and through an
intermediate host (probably also a mammal) it suffered genetic
changes thus acquiring human cells receptors. In consequence,
SARS CoV-2 virus affects both children and even more frequently where it determines more severe clinical forms of disease. In
children, COVID-19 has various clinical forms, from asymptomatic ones to severe ones, complicated by multisystem inflammatory
syndrome (MIS-C Multisystem Inflammatory Syndrome – Child
or PIMS - TS (Paediatric Multisystem Inflammatory Syndrome
temporally associated with COVID-19) that sometimes can lead
to death
Viral load and antibody responses in an asymptomatic/minimally symptomatic SA...komalicarol
Asymptomatic patients with severe acute respiratory syndrome
coronavirus 2 (SARS-CoV-2), are silent carriers of the disease. We
aimed to characterize their dynamics of disease occurrence, viral
shedding and antibody responses using a cohort of asymptomatic/
minimally symptomatic patients from Sri Lanka during the first
wave of COVID-19.
Vonlay; A paradigm shift in post endodontic restoration: A case report.komalicarol
Porcelain veneers have long been a popular restorative option that
have evolved into a well- accepted treatment that can be fabricated
in various ways. Onlays are another common treatment modality
used in contemporary dentistry to restore large areas of decay and
to replace old restorations. With the availability of newer highstrength materials such as lithium disilicate and processing technologies like CAD/CAM and heat pressing, dental professionals
are now able to produce highly esthetic, high-strength restorations
that blend seamlessly with the natural dentition while also withstanding posterior occlusal forces. A tooth more complex restoration is required after endodontic treatment when compared to normal tooth restoration, because of factors such as extensive caries,
post-treatment root canal dentin and even the economics condition
of the patient.One such design proposed by Dr.Ronald E Goldstein
is “Veenerlay”or “Vonlay”. Vonlay is a blend of an onlay with an
extended buccal veneer surface for use in premolar region, where
there is sufficient enamel present to bond. This restorative option
requires a much less invasive preparation than a full coverage
crown but provides the same structural benefits. Thus, the aim of
this case report is to present a case of Vonlay following endodontic
treatement of lower mandibular premol
A COVID Journey in Diabetes: T1D Diabetes Patient 44 years - Winning in Insul...komalicarol
Complications of Hypoglycaemia, Hypoglycaemia
and Neuroglycopenia are often encountered by patients treated
with insulin. It is feared by patients and families often leading to
emotional and mental scars and can affect lifestyle and confidence.
Hypoglycaemia can occur in premature babies, persons with hypopituitarism and Addison’s Disease. Low blood glucose can affect
athletes and the elderly leading to falls. Cases are individual and
often difficult for families, clinicians, lawyers and courts to understand.
Loops Around the Heart – A Giant Snakelike Right Coronary Artery Ectasia with...komalicarol
Coronary artery dilatation is an uncommon finding and is incidentally found during diagnostic coronary angiography or at necropsy.
The pathogenesis of dilatation of coronary arteries is still not very
well understood and therapeutic strategies are not clear. It is useful to know the difference between aneurysm and ectasia. In this
report we demonstrate the diagnostic workup of an asymptomatic
patient with a remarkable snakelike dilatation of the right coronary
artery with unique convolute. For the first time we used intracoronary injection and simultaneous echocardiographic visualization
of contrast agent (Sonovue) to proof a fistula to the coronary sinus.
Like our patient, most of the patients are asymptomatic in absence
of coronary artery disease and we decided on a conservative approach because of his very complex anatomy
Skull Metastasis From Papillary Thyroid Carcinoma : Case Report and Literatur...komalicarol
Although papillary thyroid carcinoma is a relatively common form of malignancy, metastatic spread to the skull
is exceptional. Here, we report a case of papillary thyroid carcinoma revealed by frontal skull metastasis.
Diabetes and Covid-19 Pandemic - A T1 Patient Perspective - Derek C Beattykomalicarol
A patient treated and cared for by NHS Scotland and NHS England
the author has in his 44 years T1D Diabetes journey experienced
surgery provided by the NHS by way of Vitrectomy, Ophthalmic
laser and correction, and Orthopedic knee correction following
a balance issue associated with IV antibiotic treatment for Otitis
Externa and Osteomyelitis associated with long term T1 Diabetes
with neuropathy. Interestingly IV antibiotic treatment led to glycemic issues offering explanation as to why on occasion glycaemia
abnormalities can occur with antibiotic treatment for infection.
Growth Charts-Curves of Children's Height - How to Construct Themkomalicarol
A person born in 1990, for example, grew to one year old on his/
her birth day in 1991 and 17 years old in 2007. No one grows
to their 17 or 20 years old instantaneously. It takes a long-capricious time of mental and physical activities to grow. As regards
children’s milk consumption, for example, school lunch programs
were put into in practice on national scale only in the late 1990s.
Those in their late adolescence in 2007 were not the beneficiaries
of free milk, when they were in primary school.
Dermatological health in the COVID-19 erakomalicarol
COVID-19 and its impact on dermatological health was reviewed
from theoretical and statistical frameworks in the present study. A
cross-sectional and retrospective work was documented with a selection of sources indexed to Scopus, considering the period from
2019 to 2022, as well as the search by keywords. Approaches were
discussed in order to outline a comprehensive model that considered the differences between the parties involved, as well as their
relationships in a risk context. The proposal contributes to the state
of the question in terms of the prediction of contingencies derived
from the probability and affectation of dermatological health
The Importance of Framing at the Beginning of an Review Dialoguekomalicarol
Long-term care of patients with chronic conditions in general practice rarely focuses on the treatment process. A specific interaction
tool, the Review Dialogue (RD), has been developed to integrate
patients’ health-related problems/risks as well as coping strategies
and to agree upon shared treatment objectives assuming that periodical RDs will help to achieve them. Initiated by the GP, the RD
changes the role expectations of the patient and doctor. Therefore,
the framing of the encounters is of particular importance.
Early detection of interstitial lung disease in asymptomatic patients with 2-...komalicarol
Pulmonary involvement is a common manifestation of Dermatomyositis (DM), the most frequent histologic pattern being Interstitial Lung Disease (ILD) which is a major contributor to
morbidity and mortality in these patients. Therefore, this disease
should be investigated and it is essential to perform pulmonary
function tests (PFTs) and High-Resolution Computed Tomography
(HRCT) early in the course of the disease to make a definitive
diagnosis. Nowadays, 2-deoxy-2-[18F] fluoro-D-glucose positron
emission tomography/computed tomography
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A 5-year-old child presented with inactivity, difficulty gaining weight, and pallor. The child's relative has a "blood illness". On examination, the child was underweight and pale. Hb electrophoresis found elevated HBA2, consistent with beta thalassemia minor.
This case report describes a 74-year-old male patient diagnosed with Gorlin-Goltz syndrome based on presenting with over 50 basal cell carcinomas on his face, chest, and back as well as a family history of similar lesions in his brother. Gorlin-Goltz syndrome is a rare autosomal dominant disorder characterized by basal cell carcinomas, jaw cysts, and skeletal abnormalities caused by mutations in the PTCH gene. The patient underwent surgical excision of basal cell carcinomas on his face. Regular screening was recommended due to risks of additional cancers and basal cell carcinomas associated with this syndrome.
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Behçet’s disease is a chronic inflammatory disease characterized by its clinical polymorphism associating mucocutaneous involvement to systemic manifestations. The mucocutaneous lesions are considered the hallmark of the disease, being the most common symptoms presenting at the onset of disease. Our objective was to determine the characteristics of this skin involvement during Behçet’s disease. We conducted a descriptive study over a period of 30 years, having collected all patients with Behçet’s disease.
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This document summarizes a study on mucocutaneous involvement in Behcet's disease. The study analyzed 98 patients over 30 years. All patients showed mucocutaneous lesions. Oral aphthosis was present in all patients, and genital ulcers were seen in 81% of patients. Other common lesions included pseudofolliculitis in 61% of patients and erythema nodosum in 7% of patients. All patients were treated with colchicine, while some severe cases also received corticosteroids or immunosuppressants. The main findings were that mucocutaneous lesions are very common in Behcet's disease, especially oral aphthosis and genital ul
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Behçet's disease is a chronic inflammatory disease characterized by
its clinical polymorphism associating mucocutaneous involvement
to systemic manifestations. The mucocutaneous lesions are
considered the hallmark of the disease, being the most common
symptoms presenting at the onset of disease. Our objective was
to determine the characteristics of this skin involvement during
Behçet's disease. We conducted a descriptive study over a period
of 30 years, having collected all patients with Behçet's disease.
These were 98 patients. A male predominance was observed in
our studied population with a Sex Ratio of 2.5. The mean age at
diagnosis was 34 years. Mucocutaneous involvement was observed
in all patients. Oral aphthosis was constant and genital ulcers, were
observed in 81 cases. The other mucocutaneous manifestations
were: pseudofolliculitis (61 cases), erythema nodosum (7 cases),
skin ulcers (4 cases), acneiform lesions (2 cases), perianal ulcers (1
case), skin ulceration (1 case) and erythema multiforme. (1 case).
All of our patients were treated with colchicine. Corticosteroids
and non-steroidal anti-inflammatory drugs were each indicated in
one case for resistant forms
Mucocutaneous Involvement in Behcets Diseasesemualkaira
Behçet's disease is a chronic inflammatory disease characterized by
its clinical polymorphism associating mucocutaneous involvement
to systemic manifestations. The mucocutaneous lesions are
considered the hallmark of the disease, being the most common
symptoms presenting at the onset of disease. Our objective was
to determine the characteristics of this skin involvement during
Behçet's disease. We conducted a descriptive study over a period
of 30 years, having collected all patients with Behçet's disease.
These were 98 patients. A male predominance was observed in
our studied population with a Sex Ratio of 2.5. The mean age at
diagnosis was 34 years. Mucocutaneous involvement was observed
in all patients. Oral aphthosis was constant and genital ulcers, were
observed in 81 cases. The other mucocutaneous manifestations
were: pseudofolliculitis (61 cases), erythema nodosum (7 cases),
skin ulcers (4 cases), acneiform lesions (2 cases), perianal ulcers (1
case), skin ulceration (1 case) and erythema multiforme. (1 case).
All of our patients were treated with colchicine. Corticosteroids
and non-steroidal anti-inflammatory drugs were each indicated in
one case for resistant forms.
Similar to Keratin 5 Mutation in a Bulgarian Family with Dowling - Degos Disease – A Case Report and a Review of the Literature (7)
Managment Of Long Term Care In Era Covid-19komalicarol
COVID-19 gives the chance to address long-term care categories
that are sometimes disregarded and undervalued, such as nursing
and residential homes, as well as homecare. Each method of delivering long-term care must meet the highest possible standards
of ongoing care and quality of life. More study and evaluation are
needed to aid decision-making and policy-making, particularly on
the cost-effectiveness and cost-quality elements for each country,
region, or system.
Renal failure and Quality ofLlife Indicators in Kidney Transplantationkomalicarol
This article discusses quality of life indicators for patients undergoing kidney transplantation. It reviews several tools used to measure quality of life, including the SF-36, EQ-5D, and KDQOL questionnaires. Overall quality of life is generally improved after a successful kidney transplant compared to dialysis. However, factors like side effects of immunosuppressive drugs and the risk of rejection can still impact quality of life. The article concludes that while transplantation is associated with lower mortality and better quality of life than long-term dialysis, certain patient and treatment factors must be considered when evaluating individual quality of life outcomes.
A case of childhood Burkitt's lymphoma with gingival swelling as the first sy...komalicarol
This case report describes a 4-year-old child who presented with gingival swelling as the initial symptom of Burkitt's lymphoma. The child was eventually diagnosed with stage IV Burkitt's lymphoma/leukemia based on bone marrow and genetic testing. After initial chemotherapy, the gingival swelling and right cheek swelling recurred, indicating disease recurrence. The child received further chemotherapy but ultimately passed away half a year later. This case highlights that gingival swelling can be an early oral symptom of systemic disease like Burkitt's lymphoma. Dentists and oral physicians play an important role in identifying signs of systemic conditions through oral examinations.
Neuropsychiatric Profiles of Brivaracetam: A Literature Reviewkomalicarol
Anti-seizure medications (ASMs) can cause cognitive or behavioral adverse drug reactions, which is a significant consideration
when selecting an appropriate ASM. Brivaracetam (BRV) is a
newer synaptic vesicle protein 2A ligand, which is expected to
have less neuropsychiatric adverse effects due to its mechanism of
action. To understand the impact of BRV on cognition and behavior compared with other ASMs, we conducted literatures searching
from PubMed and MEDLINE databases. After the screening process, a total of two animal studies, one randomized controlled trial, one pooled-analysis of clinical trials, one controlled study and
nine observational studies were included. Animal studies showed
that BRV did not worsen cognition or behavior performance in rodents. Human studies showed that BRV had less cognitive adverse
events compared with other second or third generation ASMs. In
addition, currently available evidence suggests that behavioral disturbance is less common with BRV compared with levetiracetam.
This review revealed that BRV has a limited impact on cognition
and behavior. For patients who are intolerant to levetiracetam
and have levetiracetam-related behavioral side effects, switching
to BRV could be beneficial. However, the heterogeneity between
studies makes the quality of the evidence weak and further trials
are needed to confirm the findings.
Clinical and evolutionary features of SARS CoV-2 infection (COVID-19) in chil...komalicarol
Starting with December 2019 the medical world has faced a
new challenge as a consequence of a new type of coronavirus-2019-nCoV, similar to several familiar strains that determine
a comparable symptomatology (SARS- severe acute respiratory syndrome, MERS- Middle East severe acute respiratory syndrome), subsequently named SARS CoV-2, while the disease it
causes- COVID-19. The virus is of animal origin and through an
intermediate host (probably also a mammal) it suffered genetic
changes thus acquiring human cells receptors. In consequence,
SARS CoV-2 virus affects both children and even more frequently where it determines more severe clinical forms of disease. In
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Keratin 5 Mutation in a Bulgarian Family with Dowling - Degos Disease – A Case Report and a Review of the Literature
1. Keratin 5 Mutation in a Bulgarian Family with Dowling - Degos
Disease – A Case Report and a Review of the Literature
Broshtilova V1,2*
, Todorov T3
, Todorova A4
and Vassileva S5
1
Department of Dermatology and Venereology, Military Medical Academy, Sofia, Bulgaria
2
Department of Infectious diseases, Parasitology and Dermatovenereology, Medical University, Varna, Bulgaria
3
Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria
4Department of Medical Chemistry and Biochemistry, Medical University, Sofia, Bulgaria
5
Department of Dermatology and Venereology, Faculty of Medicine, Sofia Medical University, Sofia, Bulgaria
Volume 2 Issue 3- 2019
Received Date: 20 May 2019
Accepted Date: 03 June 2019
Published Date: 08 June 2019
1. Abstract
Dowling-Degos Disease (DDD) is a rare reticular pigmentary disorder with an autosomal domi-
nant inheritance. Morbus Galli-Galli is considered to be an acantholytic variant of the disease.
Mutations in keratin 5 gene (KRT5) have been found in the majority of DDD patients. Herein, the
first Bulgarian pedigree with the mutation c.442_443delAG; p.Ser148Leufs*30 in the KRT5geneon
chromosome 12 (12q13.13), underlying the specific retiform hyper pigmentation in the clinical
setting of DDD, is presented. Some clinical and histo-pathological ambiguous features are also
discussed.
Annals of
Clinical and Medical Case Reports
Citation: Broshtilova V, Todorov T, Todorova A and Vassileva S, Keratin 5 Mutation in a Bulgarian Family
with Dowling - Degos Disease – A Case Report and a Review of the Literature. Annals of Clinical and Medi-
cal Case Reports. 2019; 2(3): 1-4.
acmacasereport.com
*Corresponding Author (s): Valentina Broshtilova, Department of Dermatology and
Venereology, Military Medical Academy, Sofia, Bulgaria, 3, St. GeorgiSoffiskyst, 1431,
Sofia, Bulgaria, Tel: +359 888 257 905, E-mail: broshtolova@mail.bg
ISSN: 2639-8109
2. Keywords
Dowling-Degos disease; Gal-
li-Galli disease; KRT5 Muta-
tions
Case Report
3. Introduction
The spectrum of retiform pigmentary disorders encompasses the
rare Dowling-Degos Disease (DDD) with its acantholytic vari-
ant Morbus Galli-Galli (MGG), Epidermolysis Bullosa Simplex
with Mottled Pigmentation (ESMP), reticulate acro pigmenta-
tion of Kitamura, dyschromatosis symmetrica hereditaria, and
Darier’s disease Muller et al. [1]. Interestingly, mutations in the
KRT5gene(encoding keratin 5) have been found to correspond
with certain clinical dyschromic phenotypes Hanneken et al. [2].
Wide spread reticulated hyper pigmentation with skin fragility;
blistering and progressive palmo-plantar hyperkeratosis has been
linked to p.Pro25Leumutation in ESMP Rugg et al. [3]. Acral re-
ticulated hyper pigmentation, palmar pits and breaks in derma-
toglyphsis the typical clinical picture of Kitamura’s reticulate acro
pigmentation, also linked to mutation in the KRT5 gene Griffiths
et al. [4]. Since 2006, the mutation c.418dupA was identified in
patients with DDD, presented with reticulated hyper pigmenta-
tion mainly in flexures, perioral pitted scars, and come do-like
papules on face and neck Betz et al. [5].
Herein, we present the first Bulgarian family with hereditary mot-
tled hyper pigmentation, affecting the neck, large folds, and the
upper extremities, starting at the third decade of life, with the
clinical, histology and mutational features of DDD.
4. Case Report
A 65-year-old Caucasian woman was referred to our Department
of Dermatology with reticulate, hyperpigmented, scaly papules
on the neck, lateral proximal arms, submamar and axillar folds.
The patient reported that she noted the first similar skin lesions
thirty years ago. Each lesion appeared as a red pruritic papule,
which evolved into a hyper pigmented irregular macule. Usually,
the disease recurred in summer and on sites of mechanical fric-
tion. A previous biopsy, done in another institution showed focal
subrabasal acantholysis that was interpreted as Darier’s disease.
Her past treatment regimens included topical corticosteroids
and emollients. A 4-month per-oral acitretin therapy was un-
dertaken five years ago and discontinued due to gastro-intestinal
side effects.
On physical examination, a widespread mottled hyper pigmenta-
tion involving the neck, axillar, submamar and inguinal folds, as
well as the inner aspects of both thighs, was seen (Figure 1a, b,
c). Scaly, erythematous papules were present on the advancing
3. acmacasereport.com 3
Volume 2 Issue 3 -2019 Case Report
we favor the diagnosis of DDD, although many clinical features
and the disputable pre-existing histology were more suggestive
of MGG. Based on these observations, we dare to suggest that
suprabasal acantholysis may anecdotally appear in certain DDD
exacerbation episodes, probably depending on the severity of the
relapse, thus confronting the mere existence of MGG.
DDD is a very rare dermatosis. The constellation of clinical and
histology findings is usually sufficient to conclude the diagnosis,
especially in the context of a family history and genetic back-
ground. In the last 10 years, molecular testing has been proven
as the most significant and important diagnostic tool. Half of
the DDD patients show KRT5 mutations Reisenauer et al. [11].
The KRT5 gene mutation found in our patients is the most com-
mon genetic defect. A loss of keratin 5 impairs the formation of
intermediate keratin filaments, which greatly compromise the
structural integrity of basal layer keratinocytes and the trans-
fer of pigment-carrying melanosomes from melanocytes to the
epidermal keratinocytes with the consequence of abnormal skin
pigmentation Styers et al. [12].
Generalized DDD, disseminated on trunk and extremities, has
been linked to POGLUT1 mutation Basmanav et al. [12]; Wil-
son et al. [14], encoding protein O-glucosyl transferase 1. The
dyschromic DDD cases with involvement of trunk, neck, and
genital area were identified to have mutations in POFUT1, en-
coding a protein O-fucosyl transferarase 1 Basmanav et al. [15].
Some authors tried to link the DDD clinical phenotypes with
their corresponding genetic background, stating that keratin 5
affects mostly the skin folds, POGLUT1 causes hyperpigmented
macules on the trunk and extremities, while the reticulated dys-
chromatic macules in POFUT1 mutation are distributed to the
trunk and acral areas hanneken et al. [16]. Our proband showed
very extensive hyperchromic lesions, affecting the trunk, neck,
large folds and anterior aspects of the thighs. This clinical pheno-
type does not correspond to the classical DDD flexural involve-
ment, suggesting that the distribution of the lesions should not
be considered specific and all patients should be put on extensive
genetic testing.
6. Conclusion
DDD is a rare reticular hyperpigmented disorder with an auto-
somal dominant inheritance. MGG is considered an acantholytic
variant of DDD; however, in certain individuals such suprabasal
clefting seems to be transitory, depending on the severity of the
relapse. Full genetic screening is needed in all patients with DDD,
since no true evidence exists on the specificity of the clinico-mu-
tational correlation.
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Volume 2 Issue 3 -2019 Case Report
15. Basmanav F, Fritz G, Lestringant G. Pathogenecity of POFUT1 in
Dowling-Degos disease: additional mutations and clinical overlap with
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