This is a powerpoint presentation on the epidermal keratinization and its associated disorders, presented by Dr. Jerriton, Dermatology resident of SVMCH, Pondicherry.
Subspecialty of dermatology and pathology focused on performing and interpreting tests on human tissue samples to provide scientific data and consultative opinions to referring clinicians
Pigmentation disorders of skin dermatology revision notesTONY SCARIA
dermatology revision notes for neet pg preparation based on lecture notes with high yield topic & last minute revision notes based on previous year questions
This is a powerpoint presentation on the epidermal keratinization and its associated disorders, presented by Dr. Jerriton, Dermatology resident of SVMCH, Pondicherry.
Subspecialty of dermatology and pathology focused on performing and interpreting tests on human tissue samples to provide scientific data and consultative opinions to referring clinicians
Pigmentation disorders of skin dermatology revision notesTONY SCARIA
dermatology revision notes for neet pg preparation based on lecture notes with high yield topic & last minute revision notes based on previous year questions
A discussion on various photodermatoses including sun burns, porphyria, actinic chelitis, hydroa vacciniforme and chronic actinic dermatitis. Sun tan and skin color types. Affect of Sunlight on the skin. Useful for medical residents, dermatologists and nurse. Useful in exam preparation.
Includes physiological skin changes in pregnancy, specific dermatoses such as intrahepatic cholestasis of pregnancy, polymorphic eruption of pregnancy (pruritic urticarial papules and plaques of pregnancy - PUPP), pemphigoid gestationalis and atopic eruption of pregnancy, as well as non-specific dermatoses ranging from infections, infestations, inflammations and immune disorders.
Powerpoint made by Dr. Jerriton, second year MD post graduate in DVL, SVMC, Pondy.
Dermoscopy or epiluminescence microscopy
A simple, noninvasive method to examine the subsurface features of the skin.
Structures seen
Epidermis
Dermoepidermal junction
Superficial dermis
3 types of dermoscope
1.Nonpolarized devices
2.Polarized devices
3.Hybrid devices
Dermoscopy is used in:
1.Evaluating pigmented skin lesions
2.Evaluating nonpigment skin lesions
3.Entomodermoscopy
4.Trichoscopy
5.Onychoscopy
different dermoscopic patterns are used to diagnose the dermatological diseases are
1. melanocytic patterns:
Pigmentary patterns: typical pigment pattern, atypical pigment patter, pseudonetwork
dots and globules
Blue white veil
star brust pattern
2, Non melanocytic pattern:
milia like cyst
comedo like opening
3. vascular patterns:
lacunae
arborizing vessels
comma like vessels
corkscrew vessel
red dots
glomerular vessels
linear vessels
etc
They are a heterogenous group of inherited disorders of epidermal differentiation featuring excessive scaling, Ichthyosis vulgaris,
X-linked recessive ichthyosis,
Lamellar ichthyosis,
Non-bullous ichthyosiform erythroderma,
Bullous ichthyosiform erythroderma,
Ichthyosis bullosa of Siemens,
Harlequin ichthyosis
A discussion on various photodermatoses including sun burns, porphyria, actinic chelitis, hydroa vacciniforme and chronic actinic dermatitis. Sun tan and skin color types. Affect of Sunlight on the skin. Useful for medical residents, dermatologists and nurse. Useful in exam preparation.
Includes physiological skin changes in pregnancy, specific dermatoses such as intrahepatic cholestasis of pregnancy, polymorphic eruption of pregnancy (pruritic urticarial papules and plaques of pregnancy - PUPP), pemphigoid gestationalis and atopic eruption of pregnancy, as well as non-specific dermatoses ranging from infections, infestations, inflammations and immune disorders.
Powerpoint made by Dr. Jerriton, second year MD post graduate in DVL, SVMC, Pondy.
Dermoscopy or epiluminescence microscopy
A simple, noninvasive method to examine the subsurface features of the skin.
Structures seen
Epidermis
Dermoepidermal junction
Superficial dermis
3 types of dermoscope
1.Nonpolarized devices
2.Polarized devices
3.Hybrid devices
Dermoscopy is used in:
1.Evaluating pigmented skin lesions
2.Evaluating nonpigment skin lesions
3.Entomodermoscopy
4.Trichoscopy
5.Onychoscopy
different dermoscopic patterns are used to diagnose the dermatological diseases are
1. melanocytic patterns:
Pigmentary patterns: typical pigment pattern, atypical pigment patter, pseudonetwork
dots and globules
Blue white veil
star brust pattern
2, Non melanocytic pattern:
milia like cyst
comedo like opening
3. vascular patterns:
lacunae
arborizing vessels
comma like vessels
corkscrew vessel
red dots
glomerular vessels
linear vessels
etc
They are a heterogenous group of inherited disorders of epidermal differentiation featuring excessive scaling, Ichthyosis vulgaris,
X-linked recessive ichthyosis,
Lamellar ichthyosis,
Non-bullous ichthyosiform erythroderma,
Bullous ichthyosiform erythroderma,
Ichthyosis bullosa of Siemens,
Harlequin ichthyosis
about various genodermatoses and classified according to clinical presentation.
mentioned are introduction clinical features histology management of each disease.
This presentation gives a fine description about stoma and ostomy. This contains the details regarding types, complications and the advices that you should give to a patient with a stoma.
Empowering ACOs: Leveraging Quality Management Tools for MIPS and BeyondHealth Catalyst
Join us as we delve into the crucial realm of quality reporting for MSSP (Medicare Shared Savings Program) Accountable Care Organizations (ACOs).
In this session, we will explore how a robust quality management solution can empower your organization to meet regulatory requirements and improve processes for MIPS reporting and internal quality programs. Learn how our MeasureAble application enables compliance and fosters continuous improvement.
Medical Technology Tackles New Health Care Demand - Research Report - March 2...pchutichetpong
M Capital Group (“MCG”) predicts that with, against, despite, and even without the global pandemic, the medical technology (MedTech) industry shows signs of continuous healthy growth, driven by smaller, faster, and cheaper devices, growing demand for home-based applications, technological innovation, strategic acquisitions, investments, and SPAC listings. MCG predicts that this should reflects itself in annual growth of over 6%, well beyond 2028.
According to Chris Mouchabhani, Managing Partner at M Capital Group, “Despite all economic scenarios that one may consider, beyond overall economic shocks, medical technology should remain one of the most promising and robust sectors over the short to medium term and well beyond 2028.”
There is a movement towards home-based care for the elderly, next generation scanning and MRI devices, wearable technology, artificial intelligence incorporation, and online connectivity. Experts also see a focus on predictive, preventive, personalized, participatory, and precision medicine, with rising levels of integration of home care and technological innovation.
The average cost of treatment has been rising across the board, creating additional financial burdens to governments, healthcare providers and insurance companies. According to MCG, cost-per-inpatient-stay in the United States alone rose on average annually by over 13% between 2014 to 2021, leading MedTech to focus research efforts on optimized medical equipment at lower price points, whilst emphasizing portability and ease of use. Namely, 46% of the 1,008 medical technology companies in the 2021 MedTech Innovator (“MTI”) database are focusing on prevention, wellness, detection, or diagnosis, signaling a clear push for preventive care to also tackle costs.
In addition, there has also been a lasting impact on consumer and medical demand for home care, supported by the pandemic. Lockdowns, closure of care facilities, and healthcare systems subjected to capacity pressure, accelerated demand away from traditional inpatient care. Now, outpatient care solutions are driving industry production, with nearly 70% of recent diagnostics start-up companies producing products in areas such as ambulatory clinics, at-home care, and self-administered diagnostics.
The dimensions of healthcare quality refer to various attributes or aspects that define the standard of healthcare services. These dimensions are used to evaluate, measure, and improve the quality of care provided to patients. A comprehensive understanding of these dimensions ensures that healthcare systems can address various aspects of patient care effectively and holistically. Dimensions of Healthcare Quality and Performance of care include the following; Appropriateness, Availability, Competence, Continuity, Effectiveness, Efficiency, Efficacy, Prevention, Respect and Care, Safety as well as Timeliness.
Navigating Challenges: Mental Health, Legislation, and the Prison System in B...Guillermo Rivera
This conference will delve into the intricate intersections between mental health, legal frameworks, and the prison system in Bolivia. It aims to provide a comprehensive overview of the current challenges faced by mental health professionals working within the legislative and correctional landscapes. Topics of discussion will include the prevalence and impact of mental health issues among the incarcerated population, the effectiveness of existing mental health policies and legislation, and potential reforms to enhance the mental health support system within prisons.
R3 Stem Cells and Kidney Repair A New Horizon in Nephrology.pptxR3 Stem Cell
R3 Stem Cells and Kidney Repair: A New Horizon in Nephrology" explores groundbreaking advancements in the use of R3 stem cells for kidney disease treatment. This insightful piece delves into the potential of these cells to regenerate damaged kidney tissue, offering new hope for patients and reshaping the future of nephrology.
Defecation
Normal defecation begins with movement in the left colon, moving stool toward the anus. When stool reaches the rectum, the distention causes relaxation of the internal sphincter and an awareness of the need to defecate. At the time of defecation, the external sphincter relaxes, and abdominal muscles contract, increasing intrarectal pressure and forcing the stool out
The Valsalva maneuver exerts pressure to expel faeces through a voluntary contraction of the abdominal muscles while maintaining forced expiration against a closed airway. Patients with cardiovascular disease, glaucoma, increased intracranial pressure, or a new surgical wound are at greater risk for cardiac dysrhythmias and elevated blood pressure with the Valsalva maneuver and need to avoid straining to pass the stool.
Normal defecation is painless, resulting in passage of soft, formed stool
CONSTIPATION
Constipation is a symptom, not a disease. Improper diet, reduced fluid intake, lack of exercise, and certain medications can cause constipation. For example, patients receiving opiates for pain after surgery often require a stool softener or laxative to prevent constipation. The signs of constipation include infrequent bowel movements (less than every 3 days), difficulty passing stools, excessive straining, inability to defecate at will, and hard feaces
IMPACTION
Fecal impaction results from unrelieved constipation. It is a collection of hardened feces wedged in the rectum that a person cannot expel. In cases of severe impaction the mass extends up into the sigmoid colon.
DIARRHEA
Diarrhea is an increase in the number of stools and the passage of liquid, unformed feces. It is associated with disorders affecting digestion, absorption, and secretion in the GI tract. Intestinal contents pass through the small and large intestine too quickly to allow for the usual absorption of fluid and nutrients. Irritation within the colon results in increased mucus secretion. As a result, feces become watery, and the patient is unable to control the urge to defecate. Normally an anal bag is safe and effective in long-term treatment of patients with fecal incontinence at home, in hospice, or in the hospital. Fecal incontinence is expensive and a potentially dangerous condition in terms of contamination and risk of skin ulceration
HEMORRHOIDS
Hemorrhoids are dilated, engorged veins in the lining of the rectum. They are either external or internal.
FLATULENCE
As gas accumulates in the lumen of the intestines, the bowel wall stretches and distends (flatulence). It is a common cause of abdominal fullness, pain, and cramping. Normally intestinal gas escapes through the mouth (belching) or the anus (passing of flatus)
FECAL INCONTINENCE
Fecal incontinence is the inability to control passage of feces and gas from the anus. Incontinence harms a patient’s body image
PREPARATION AND GIVING OF LAXATIVESACCORDING TO POTTER AND PERRY,
An enema is the instillation of a solution into the rectum and sig
3. Introduction
■ Abnormality is found in
– Keratinization
– Cell cohesion & proliferation within epidermis
■ Shedding of corneocyte balanced procedure
– Thickness of horny layer does not alter
■ If keratinization & cell cohesion become abnormal
– horny layer thick
– Skin surface dry & scaly
JMJ 3
Living keratinocyte
(deeper epidermis)
Dead corneocytes
(horny layer)
Impairs barrier function
4. Mendelian disorder of cornification
(MeDOC)
■ Characterized by
– Hyperkeratosis or
– Visible scaling or
– Both
■ Molecular mechanisms underlying
JMJ 4
Abnormal genetic coding for
Keratins Enzymes
Involed in cell cohesion in
horny layer
Molecules
Critical in signalling pathway governing
cell cohesion in spinous layer
7. Ichthyosis
■ Main features
– Dry, rough skin with marked scaling
– No inflammation
■ There are 36 form of inherited ichthyosis including,
– Conditions primarily affecting the skin &
– Rarer ‘syndromic’ associations involving the organs
■ Over 25 genes of mutations+
JMJ 7
8. Ichthyosis
■ Pathophysiological aspects of ichthyosis
– Abnormal differentiation and/or
– Abnormal desquamation (retention hyperkeratosis) or
– Accelerated keratinocyte production (epidermal hyperplasia/
hyperproliferative hyperkeratosis)
JMJ 8
9. Ichthyosis – classification
JMJ 9
Ichthyosis
Inherited Acquired
Non-syndromic Syndromic
Common
ichthyosis
Autosomal
recessive
congenital
ichthyosis
Keratinopath
ic ichthyosis
Others
X –linked
ichthyosis
syndromes
Autosomal ichthyosis
forms with prominent
Hair
abnormalities
Neurological
signs
Deafness
Transient
neonatal
respiratory
distress
13. Inherited ichthyois – non-syndromic forms
Disease Mode of inheritance Genes
Common Ichthyosis
Ichthyosis vulgaris Semidominant FLG
Non-syndromic recessive x-linked
ichthyosis (RXLI)
XR STS
JMJ 13
14. Inherited ichthyois – non-syndromic forms
Disease Mode of inheritance Genes
Autosomal Recessive Congenital Ichthyosis
Harlequin ichthyosis AR ABCA12
Lamellar ichthyosis AR TGM1, NIPAL4, ALOX12B, ABCA12,
PNPLA1, CERS3, LIPH
Congenital ichthyosiform
erythroderma
AR ALOXE3, ALOX12B, ABCA12,
CYP4F22, NIPAL4, TGM1
Self-healing collodion baby (SHCB) AR TGM1, ALOXE3, ALOX12B
Acral self-healing collodion baby AR TGM1
Bathing suit ichthyosis AR TGM1
JMJ 14
15. Inherited ichthyois – non-syndromic forms
Disease Mode of inheritance Genes
Keratinopathic Ichthyosis (KPI)
Epidermolytic ichthiosis AD KRT1, KRT10
Superficial epidermolytic ichthyosis AD KRT2
Congenital reticular ichthyosiform
erythroderma
AD KRT10
Annular epidermolytic ichthyosis AD KRT1, KRT10
Ichthyosis Curth-Mackin AD KRT1
Autosomal recessive epidermolytic
ichthyosis
AR KRT10
Epidermolytic naevi Somatic mutations KRT1 KRT10
JMJ 15
16. Inherited ichthyois – non-syndromic forms
Disease Mode of inheritance Genes
Other Non-Syndromic forms
Loricin Keratodrma AD LOR
Erythrokeratodermia viriabilis AD (AR) GJB3, GJB4
Inflammatory peeling of skin (PSS
type B)
AR CDSN
Exfoliative ichthyosis AR CSTA
Keratosis linearis-ichthyosis
congenita-keratoderma
AR POMP
JMJ 16
19. Inherited ichthyois – syndromic forms
Disease Mode of inheritance Genes
Autosomal ichthyosis syndromes with prominent hair abnormalities
Netherton syndrome AR SPINK5
Severe dermatitis- multiple
allergies-metabolic wasting (SAM)
AR DSG1
Ichthyosis with hypotrichosis AR ST14
Neonatal ichthyosis-sclerosing
cholangitis
AR CLDN1
JMJ 19
20. Inherited ichthyois – syndromic forms
Disease Mode of inheritance Genes
Autosomal ichthyosis syndromes with prominent neurological signs
Refsum syndrome AR PHYH, PEX7
Multiple sulphate deficiency AR SUMF1
Gauchers syndrome type 2 AR GBA
Sjogren-Larsson syndrome AR ALDH3A2
Natural lipid storage disease with
ichthyosis
AR ABHD5
Trichothiodystrophy AR C7ORF11, ERCC2, XPD, ERCC3, XPB,
GTF2H5, TTDA
Cerebral dysgenesis-neuropathy –
ichthyosis-palmoplantar
keratoderma (CEDNIK)
AR SNAP29
Arthrogryposis-renal dysfunction-
cholestasis (ARC)
AR VPS33BJMJ 20
21. Inherited ichthyois – syndromic forms
Disease Mode of inheritance Genes
Autosomal ichthyosis syndromes with DEAFNESS
Keratitis-ichthyosis-deafness (KID) AD GJB2 (GJB6)
ELOVL4 deficiency AR SUMF1
Mental retardation – enteropathy –
deafness – neuropathy – ichthyosis –
keratodermia (MEDNIK)
AR AP1S1
JMJ 21
22. Inherited ichthyois – syndromic forms
Disease Mode of inheritance Genes
Autosomal ichthyosis syndromes with transient neonatal respiratory distress
Ichthyosis- prematurity syndrome
(IPS)
AR SLC27A4
JMJ 22
26. Cause
■ Mutant alleles of filaggrin gene
– 4% in European population
■ Heterozygotes have milder disease
■ Compound heterozygotes
■ Homozygotes
JMJ 26
Filaggrin gene
Mutation
Loss / reduction in profilaggrin
Major component of keratohyalin
granules
More marked disease
27. JMJ 27
Major component of
keratohyalin granule
Cleaved
Breakdown of fillagrin
Produce filaggrin
degradation products
Reduce tran-sepidermal
water loss
28. Clinical course
■ Not present at birth
■ Develop during 1st months of life
■ Wells & Kerr study
– Demonstratable scaling in 40% of patients develop at the age of 3
months
■ Some improve in adult life,
■ Particularly during warm weather & in high humidity
– Seasonal variation (improve during summer)
■ But seldom clears completely
JMJ 28
29. Presentation
■ Dryness
– Usually mild & symptoms free
■ Scales
– Light grey
– Small & branny
– Covering mainly extensor surfaces of extremities & trunk
■ Groin & larger flexures always spared
■ Smaller scales compared to RXLI
■ Accentuated palmar creases almost all IV
– Found in almost all IV
– Not influenced by humidity or seasonal variation
JMJ 29
32. Presentation
■ Keratosis pilaris – may often present
■ Few experience – hypohydrosis
■ Other frequent features
– Keratosis follicularis
– Mind concomitant atopic eczema
– Allergic rhinitis
JMJ 32
As mutation in filaggrin gene
strong predisposing factor for atopic
eczema
35. Investigations
■ Immunohistochemical studies
– Absent or markedly reduced filaggrin signal
■ Ultrastructure
– Scarce & crumbly keratohyalin granules
– These defects correlate well with number of FLG mutations in its
severity
JMJ 35
Investigations
Immunohistochemistry Ultrastructure Histology
37. Treatment
■ Palliative
■ Dryness can be helped by
– Regular use of emollients
– Best applied after a shower
■ Can use
– Emulsifying ointments
– Soft white paraffin
– E45
– Unguentum Merck
JMJ 37
• Bath oils & creams
containing humectants
• Glycerin
• Urea
• Lactic acid
39. Cause
■ Less common than IV
■ Complete form seen only in males
■ Female carries may show mild scaling
■ In UK – affects 1 in 600 males
■ Cause by mutations in STS gene
■ Associate with deficiency of enzyme STEROID SULFATASE
– Which hydrolyses cholesterol sulfate
JMJ 39
40. JMJ 40
Impaired hydrolyzation of
cholesterol sulphate
Steroid sulfatase deficiency
Inhibit proteases
Kallikrein 5 Kallikrein 7
In skin
Marked reduction in serene
protease activity
Decrease desquamation
Hyperkeratosis
Example for retention
hyperkeratosis
41. Cause
■ Responsible gene is in end in short arm of X chromosome
– Xp 22.3
■ Sometimes gene deletion may extend
– Adjacent genes may also delete
– Result in Kallmann syndrome
– With the recessive form of X linked chondrodysplasia punctata
– Or with brain abnormalities
■ Mental retardation
■ Unilateral polymicroglia
■ Retinitis pigmentosa
■ Disease severity may be enhanced by concomitant filaggrin mutations
JMJ 41
42. Presentation & course
■ Soon after birth
– Very fine scaling or peeling of skin
– Often goes unnoticed & soon resolves
■ Scales – at age of 2-6 months
– Larger & browner
– Involves the neck,
– to the lesser extent the popliteal and antecubital areas,
– as well as the skin generally
■ Palms & soles are normal
■ About 30% have light grey scales easily misdiagnose as IV
■ No association between atopy or keratosis pilaris
■ Condition persist throughout life
JMJ 42
43. Presentation & course
■ Dark hyperkeratosis in lateral aspects of trunk & back of neck
– Leaving “dirty look”
– Characteristic appearance
■ Deep stromal corneal opacities
– Frequent finding
– Does not affect visual acuity
■ RXLI have association with
– Cryptorchidism
– ADHD
– Autism
JMJ 43
48. Complications
■ Affected babies may be born after a prolonged labour
– Presence of the enzyme defect in placenta
(placental sulfatase deficiency)
– insufficienct cervical dialation
■ Kallaman’s syndrome
– Hypogonadotrophic hypogonadism & anosmia
– Caused by deletion of a part of X chromosome
– That included the gene for X-linked ichthyosis
■ Neurological defects may occur
JMJ 48
49. Investigations
■ None usually needed
■ Drawing pedigree tree
– Shoes mode of inheritance
■ Fluorescence in situ hybridization
– To detect steroid sulfatase gene deletions
■ Electron microscopy
– Retained corneo-desmasomes within the stratum corneum
– This is a typical feature of retention hyperkeratosis
■ Histology
– Orthohyperkeratosis & a well maintained, often thickened stratum
granulosum
– Marked follicular plugging (although no obvious keratosis follicularis)
JMJ 49
50. Treatment
■ Dryness can be helped by
– Regular use of emollients best applied after a shower
■ Oral aromatic retinoids best avoided
JMJ 50
52. Autosomal recessive congenital
ichthyoses
Many types
Lamellar Ichthyosis
Congenital
ichthyosiform
erythroderma
Harlequin ichthyosis
JMJ 52
■ Bizarre skin changes are seen at birth
■ Term “COLLODION BABY” is often used
53. Autosomal recessive congenital
ichthyoses
■ Mutation in plethora genes, which encodes proteins involved
– in lipid transport such as ABCA12,
– in lipid biosynthesis such as CERS3,
– in fatty acid metabolism or
– have a role in assembling supra-structures such as the cornified
envelope
JMJ 53
54. Autosomal recessive congenital
ichthyoses
■ Initially stratum corneum is smooth & shiny
– Skin looks as it is covered with cellophane or collodion
– Tight skin ectropion & feeding difficulty
■ Shiny outer surface is shed within a few days
– Leaving behind red scaly skin
■ Collodion babies may have problems with
– Temperature regulation
– High water loss
JMJ 54
Best dealt with by high humidity incubators
56. Lamellar ichthyosis & CIE
■ Rare condition
■ Inherited as autosomal recessive trait
■ Skin changes at birth in both collodion baby
■ Later they can be distinguished by
■ Both last for life
■ Cause disfigurement
JMJ 56
Lamellar ichthyosis • Plate-like scales
Congenital ichthyothiform
erythroderma
• Finer scaling
• More obvious redness
60. Acral peeling skin syndrome
■ Milder disorder
■ Due to mutation in transglutaminase -5 gene
■ Persistent sun-burn like peeling is limited to the hands & feet
JMJ 60
61. Bathing suit ichthyosis
■ Confined to axillae, trunk & scalp
■ Self healing collodion baby
– Completely resolves by 3 months of age
JMJ 61
63. Self healing collodion baby
■ Completely resolves by 3 months of age
JMJ 63
(a) Collodion baby at birth (b) mild ichthyosis and minimal erythroderma at the age of 21
montha
64. Harlequin fetus
■ Results from null mutation in ABCA12 gene
– On chromosome 2q35
– Member of ABC transporter superfamily
– Normal function – forming a skin lipid barrier
■ Affected babies
– Preterm
– Covered with an armor-like collodion membrane
– When it sheds reveals thick fissured hyperkeratosis
– Ectropion & eclabium (outward turning of lips)
– Extreme cases - die
JMJ 64
65. Harlequin fetus
■ Need neonatal ICU care
■ Infants that do survive develop
– Very severe hyperkeratotic erythroderma
■ Missense mutations in ABCA12 gene
– May have milder repercussions
– Resulting in lamellar ichthyosis
JMJ 65
68. Epidermolytic ichthyosis
■ Previously known as
– Bullous ichthyosiform erythroderma
■ Rare condition
■ Autosomal dominant
■ Socially disturbing secondary infection resulting foul odor
■ Mutation of the genes (on chromosomes 12q13 and 17q21)
– Controls the production of keratins 1 & 10
JMJ 68
69. Epidermolytic ichthyosis
■ Clinical course – shortly after birth skin become
– Generally red
– Show numerous blisters
– Redness fades over few months
– Tendency to blister also lessens
■ During childhood
– Gross brownish warty hyperkeratosis
– Sometimes roughly linear or annular form
– Usually worst in flexures
JMJ 69
70. Epidermolytic ichthyosis
■ Diseased skin
– May become secondary infected and painful
– May develop foul odor
■ Histology
– Thickened granular cell layer
– Contains large granules
– Clefts may be seen in upper dermis
■ Few with localized lesions with same histology
– Have gonadal mosaicism
– Therefore their children risk of developing generalized disorder
JMJ 70
71. Epidermolytic ichthyosis
■ Treatment symptomatic
■ Antibacterial washes & masking fragrances
■ Antibiotics may need
■ Acitretin in severe cases
■ Superficial epidermolytic ichthyosis
– Milder
– Autosomal dominant
– Resulting from defect in keratin 2 gene
JMJ 71
74. Other ichthyosiform disorders
■ Ichthiosiform skin changes may result as a part of multisystem disease
■ Refsum’s syndrome
– Autosomal recessive
– Deficiency of a single enzyme concerned in the break down of phytanic
acid
– Phytanic acid then accumulates in tissues
– Retinal degeneration
– Peripheral neuropathy
– Ataxia
JMJ 74
75. Other ichthyosiform disorders
■ Rud’s syndrome
– Ichthyosiform erythroderma in association with
– Mental retardation
– Epilepsy
■ Netherton’s syndrome
– Brittle hair (bamboo deformity)
– Curious gyrate
– Erythromatous hyperkeratotic eruption (ichthyosis linearis
circumflexa)
JMJ 75
78. Acquired Ichthyosis
■ Similar to ichthyosis vulgaris
■ Arises in adulthood
■ Rare
■ Histology
– Epidermis show compact hyperkeratosis
– With a thinned or absent granular cell layer
■ Improve with treatment for the systemic disease
JMJ 78
81. Cause
■ Common
■ Affect 50% of adolescent population
■ Autosomal dominant
■ Caused by mutation in a gene lining on the short arm of chromosome 18
■ Heterozygous carriers with abnormal profilaggrin gene
– Often have keratosis pilaris
■ Abnormality is in
– Keratinization of hair follicle
– Which become filled with horny plugs
JMJ 81
82. Presentation & course
■ Skin changes
– begin in childhood
– Less obvious in adulthood
■ Most common type
– Greyish horny follicular plugs
– Sometimes with red areolar
– Confined to the outer aspect of thighs & upper arms
– Skin feels rough
■ Less often
– Affects the sides of face
– Perifollicular erythema
– Loss of eyebrow hair
■ There is an association with ichthyosis vulgaris
JMJ 82
83. Complications
■ Involvement of cheeks
– May cause ugly pitted scaring
■ Follicles in the eyebrows may damage
– Hair loss in eyebrows
JMJ 83
84. Differential diagnosis
■ In severe vitamin deficiency
– Widespread follicular keratosis (phynoderma) occurs
■ None are needed
JMJ 84
Investigations
85. Treatment
■ Not usually needed
■ Keratolytic
– Salicylic acid
– Urea
■ UV radiation
– Temporary benefit
■ Moving to more humid climate
JMJ 85
87. Cause
■ Rare
■ Autosomal dominant
■ New mutations common
■ Characterized by
– Chronic eruption of keratotic papules
– Histology of which shows acantholysis & dyskeratosis
■ Abnormal gene
– ATP2A2 on chromosome 12q24
– Encodes for SERCA2, calcium pump
(keeps high concentration of calcium in endoplasmic reticulum)
JMJ 87
88. Presentation
■ Signs appear in mid teens
– Usually after overexposure to sunlight
■ Characteristic lesion
– Small pink or brownish papules with
– Greasy scale
– These coalesce into warty plaques in a seborrheic distribution
■ Early lesions seen on
– Sternal area
– Interscapular area
– Behind the ears
JMJ 88
89. Presentation
■ Severity varies
■ Abnormalities remain for life
■ Other skin changes
– Plane warts on the backs of the hands
– Punctate keratoses or pits on the palms & soles
– Cobblestone-like irregularities of the mucus membranes in the mouth
– Distinctive nail dystrophy
– White or pinkish lines or ridges run longitudinally to the free edge of
the nail , where they end in triangular nicks
JMJ 89
90. Complications
■ Some are stunted
■ Some families Darier’s disorder runs with bipolar mood disorder
■ Personality disorder including antisocial behaviour
■ Over half of patients have major psychiatric condition at some point in
their life
■ Impairment of delayed hypersensitivity
– High tendency to develop widespread herpes simplex & bacterial
infections
JMJ 90
91. Differential diagnosis
■ Lesions are similar to seborrheic eczema
– This lacks warty papules of Darier’s disease
■ Acanthosis nigricans
– Mainly flexural
■ Keratosis pilaris
– Favors outer upper arms and thighs
■ Other forms of folliculitis
■ Grover’s disease
JMJ 91
93. Treatment
■ Severe and disturbing disease
– Long term acitrecin
– Ablative laser treatment
– Varied strengths of topical 5-fluorouracil
■ Milder cases
– Only topical keratolytics (salicylic acid)
– Control of infection
JMJ 93
95. Inherited types
■ Many genodermatoses share keratoderma of the palms & soles
■ Clinical patterns & modes of inheritance vary from family to family
■ Punctate
■ Striate
■ Diffuse
■ Mutilating
■ Sometimes in association with metabolic disorders such as tyrosinaemia or
with changes elsewhere
JMJ 95
96. Inherited types
■ Punctate type
– Due t mutation of keratine 16 gene
– On chromosome 17 – 17q12-q21
■ Epidermolytic type
– By mutation of keratin 9 gene
– Found only on palms and soles
■ Diffuse type
– Most common type
– Also known as tylosis
– Inherited as autosomal dominant trait linked to changes in chromosome
region 12q11-q13
– Which harbours the type 11 keratin gene cluster
– Few have association with oesophageal carcinoma
JMJ 96
99. Acquired types
■ Some healthy people may have few punctate keratoses on palms,
■ & this is no longer thought as a cause for internal malignancy
■ However palmar keratosis cause by arsenic may have association between
malignancy
■ Block people are prone to keratotic papules along their palmar creases
■ Sometimes K of Palms and soles may be part of generalized skin diseases
– Pitiryasis rubra pilaris
– Lichen planus
JMJ 99
100. Acquired types
■ Keratoderma climacterium
– Seen in over-weight middle aged women
– At about the time of menopause
– Most marked around the border of hals
– Where painflul fissures form
– & interfere with walking
■ Treatment
– Regular paring
– Use of keratolytic ointments
– Many improve with application of 40% urea in cream or ointment bases
JMJ 100
103. Presentation
■ Fibromatous hyperkeratoric areas
– Appear on the backs of many finger joints
■ Usually begins in late childhood
■ Persisting thereafter
■ Can have an association wit Dupuytren’s contracture
JMJ 103
108. Callocities
■ More diffuse type of thickening of
■ Keratin layer
■ Seems to be a protective response to
– Repeated friction & pressure
■ Often occupations;
■ Painless
■ No therapy needed
JMJ 108
109. Cones
■ Has a central cone of hard keratin
■ They hurt when forced inward
■ Appear, where there is local pressure
– Often between bony prominences and shoes
■ Favourite areas
– Under surface of toe joints
– Under prominent metatarsals
JMJ 109
110. Cones
■ Soft cones
– Arise in 3rd & 4th toe clefts
– When toes are squeezed together by tight shoes
– Such are often macerated
■ Main DD
– Hyperkeratotic warts
■ These have tiny bleeding points pared down or
■ Pinpoint blood vessels – when examined with dermatoscope
– Corn
■ Has only its hard compacted avascular core surrounded by
■ More diffuse thickening of opalescent keratin
JMJ 110
111. Cones
■ Treatment
– Eliminate pressure
– Regular paring reduces the symptoms temporary
– Well fitting shoes are essential
– Cones under metatarsals
■ Helped by soft spongy sikes or orthotic shoe inserts
– Special care needed for corns on ischemic or diabetic feet
■ Which has greater risk of infection & ulceration
JMJ 111