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Dyschromatosis and Reticulate pigmentary disorders

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Dyschromatosis and Reticulate pigmentary disorders

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Dyschromatosis and Reticulate pigmentary disorders

  1. 1. Dyschromatosis and Reticulate Pigmentary Disorders Presenter: Dr. Sanjay Singh AIIMS, New Delhi
  2. 2. Introduction Reticulate Pigmentary Disorders Freckle like angulated, brown to black macules joined at their margins to form a reticulate (net-like) pattern
  3. 3. Dyschromatosis Interspersed hyperpigmented and hypopigmented macules of varying size and shapes
  4. 4. CLASSIFICATION Acral Flexural Generalized • Reticulate acropigmentation of Kitamura • Dyschromatosis symmetrica hereditaria (Acropigmentation of Dohi) • Dowling-Degos disease • Dyskeratosis congenita • Dyschromatosis universalis hereditaria • Dermatopathia pigmentosa reticularis • Naegeli Franceschetti Jadassohn syndrome • Amyloidosis cutis dyschromica • Epidermolysis bullosa simplex with mottled pigmentation • Confluent and reticulated papillomatosis • Prurigo Pigmentosa
  5. 5. Epidemiology  Rare group of disorders  Incidence and prevalence: Not known  Most cases: Japan  Paucity of literature might be due to underreporting of cases  Mostly autosomal dominant with variable degrees of penetrance
  6. 6. Spectrum of reticulate flexural and acral pigmentary disorders in northern India. Dhar S et al. J Dermatol 1994;21:598-603. • N = 10 patients • RAPK: 6 • DDD: 2 • RAPK-DDD: 1 • DSH: 1
  7. 7. Reticulate acropigmentation of Kitamura (RAPK)  First 20 years, F>M  Atrophic, hyperpigmented macules on dorsal aspects of hands and feet  Pits -palms and soles  Breaks in dermatoglyphic pattern
  8. 8. Atrophic hyperpigmented macules over face and neck
  9. 9. Multiple Palmar PitsMultiple atrophic hyperpigmented macules over neck
  10. 10. Genetics Disintegrin and metalloproteinase domain-containing protein (ADAM)10 Notch signaling pathway Distribution patterns or transport processes of melanosomes in keratinocytes Whole-exome sequencing: ADAM10 mutation
  11. 11.  Epidermal atrophy  Elongated thin rete ridges  Increased basal layer pigmentation at tips of rete ridges  Special staining shows increased number of dopa-positive melanocytes Histopathology
  12. 12. Cutaneous Extracutaneous  Plantar keratoderma  Alopecia areata  Nevus spilus  Nevus anemicus  Acrokeratoelastoidosis  Tylosis  Enamel hypoplasia  Bilateral talipes
  13. 13.  No Specific treatment option available  20% azelaic acid has been used with variable results Treatment
  14. 14. • 4-mm spot size, 2 J/cm2 • Seven sessions
  15. 15. • 3 mm spot size, 7 J/cm2 • 2 sessions, 6-week apart
  16. 16. Dyschromatosis symmetrica hereditaria • Acropigmentation of Dohi • Intermingled hyper- and hypopigmented macules on dorsal aspect of distal extremities • Occasionally freckle-like macules on face • Starts early in life, with progression halting around adolescence • Neurological abnormalities: seizure, dystonia, developmental regression, autistic disorder, depression
  17. 17. Genetics  DSRAD/ADAR1 gene: located on chromosome 1q  Encode RNA-specific adenosine deaminase
  18. 18. Histopathology Hypopigmented lesion. Decreased melanin as well as melanocytes Hyperpigmented lesion: Increased melanin in basal & suprabasal layer
  19. 19. Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases. Oyama M et al. Br J Dermatol 1999;140:491-6.  N = 185, 170 (92%) from Japan  M:F ratio :: 1.1 : 1  Family history: 77.5%  Onset before 6 years of age: 73%  Face and extremities involvement: 43% No significant differences in clinical characteristics between cases from Japan and those from outside Japan.
  20. 20. Treatment  No effective treatment
  21. 21. 1-mm punch from abdomen taken After a week, 308-nm excimer light weekly for 6 months
  22. 22. • 90 mJ, pulse size of 10 mm and frequency 300 Hz • 4 session at interval of 3 months
  23. 23. CLASSIFICATION Acral Flexural Generalized • Reticulate acropigmentation of Kitamura • Dyschromatosis symmetrica hereditaria (Acropigmentation of Dohi) • Dowling-Degos disease • Dyskeratosis congenita • Dyschromatosis universalis hereditaria • Dermatopathia pigmentosa reticularis • Naegeli Franceschetti Jadassohn syndrome • Amyloidosis cutis dyschromica • Epidermolysis bullosa simplex with mottled pigmentation • Confluent and reticulated papillomatosis • Prurigo Pigmentosa
  24. 24. Dowling Degos disease • Dark Dot disease • Reticular hyperpigmentation in flexor areas: neck, axilla, antecubital fossa, submammary area, and groin • Scattered comedo like papules on back and/or neck • Pitted acneiform scars
  25. 25. Dowling Degos disease • Hypopigmented macules and hyperkeratotic brown papules on non-flexural areas such as extremities, trunk/back and neck • Multiple epidermal cysts
  26. 26. Genetics  Keratin 5  Protein O-fucosyltransferase 1 (POFUT1)  Protein O-glucosyltransferase 1 (POGLUT1) Post-translational modification of Notch proteins
  27. 27.  Acanthosis  Irregular elongation of thin branching rete ridges  Concentration of melanin at rete tips  No quantitative ↑ in number of melanocytes Histopathology
  28. 28.  Hydroquinone, tretinoin and topical steroids: Minimal/no response  Fractional Er:YAG laser  Combination of Q-switched Nd:YAG and fractional carbon dioxide laser  One patient responded favorably to the use of intense pulsed light Treatment
  29. 29. Treatment of Dowling-Degos disease with Er:YAG-laser: results after 2.5 years. Wenzel G et al. Dermatol Surg 2003;29:1161-2.
  30. 30. Associations • Hidradenitis suppurativa • Keratoacanthoma • Multiple epidermal cysts • Trichilemmal cysts • Squamous cell carcinoma • Mental retardation
  31. 31. (a) Multiple grouped shiny skin-colored to erythematous nodules and plaques on left scrotum with adjacent papules and nodules. (b) Face showing discrete, hyperpigmented macules on forehead. Pitted scars prominent on nose, perinasal and perioral regions. (c) Brown hyperpigmented macules in right axilla
  32. 32. Generalized DDD • Diffuse hyperpigmentation • Symmetrically distributed hypopigmented or erythematous macules and papules-limbs or generalized
  33. 33. Galli Galli disease • A very rare variant of DDD but different on histology showing acantholytic cells • Galli-Galli disease shows the characteristic clinical findings of DDD • This association is now proved by genetic studies V1 domain of KRT5 gene on 12q chromosome
  34. 34. Follicular DDD • Punctate folliculocentric pigmented macules, pits and comedo-like lesions • Absence of characteristic non-follicular flexural hyperpigmentation
  35. 35. Haber’s Syndrome • Rosacea-like eruption over the face • Profuse keratotic lesions representing seborrheic keratosis
  36. 36. Few cases of clinical features of both DDD and RAPK have been reported. DDD-RAPK overlap
  37. 37. Dyschromatosis universalis hereditaria  Hypo and hyperpigmented macules occurring in a generalized form in first few years of life  Can involve palms, soles and mucous membranes  No spontaneous regression with age  Various cutaneous and non-cutaneous disorders reported to co-exist
  38. 38. Dyschromatosis universalis hereditaria. Sethuraman G et al. Clin Exp Dermatol 2002;27:477-9.
  39. 39. Genetics  ABCB6 (ATP binding cassette): chromosome 2q  Molecular transportation across cell membranes
  40. 40. Histopathology  Hypopigmented lesion: Melanin  Hyperpigmented lesion: Melanin Treatment  No specific treatment exist
  41. 41. Dermatopathia pigmentosa reticularis  Triad of cutaneous reticulate hyperpigmentation, non-cicatricial alopecia, and onychodystrophy  Pigmentary change predominantly truncal  Develop in early childhood with no spontaneous improvement  Other important features are: Absent/decreased dermatoglyphics Hypohidrosis or hyperhidrosis Acral nonscarring blisters Diffuse or punctate palmoplantar hyperkeratosis
  42. 42. Genetics  KRT14 gene located on chromosome 17
  43. 43. Histopathology  Not diagnostic  Heavily pigmented epidermis  Basal layer degeneration  Interface dermatitis  Dermal pigmentary incontinence
  44. 44. Treatment  No specific treatment exists  Palmoplantar keratoderma: Topical keratolytics
  45. 45. Naegeli-Franceschetti-Jadassohn syndrome  Complete absence of dermatoglyphics Pigmentary abnormality begins at 1-5 years of age and improves spontaneously after puberty Mottled pattern or streaks and whorls pattern of pigmentation
  46. 46. Absent Dermatoglyphics
  47. 47. Most distressing part: Hypohidrosis Causes discomfort and possible collapse by heat, even after mild exercise
  48. 48.  Dentition and enamel defect, sometimes severe enough leading to early total loss of teeth  Prominent nail dystrophy
  49. 49. DPR vs NFJS DPR NFJS  Diffuse alopecia  Reticulate pigmentation fades by puberty  Palmoplantar keratoderma  Nail dystrophy  Enamel defects
  50. 50. Genetics
  51. 51. Treatment  Exposure to heat should be limited, and sufficient hydration is recommended  Sports-related exercise should be restricted  Tooth care is required to prevent early dental caries
  52. 52. Epidermolysis Bullosa Simplex with Mottled Pigmentation  Bullae at birth or in early infancy that heal without scarring  Reticulate pigmentation (both hypo & hyper) occurs later in infancy or in childhood  Palmoplantar hyperkeratosis, skin atrophy, noncicatricial alopecia and nail dystrophy can be seen  Initially difficult to distinguish between EBSMP and other forms of EBS  Bullae formation decreases with age
  53. 53. Genetics  Missense mutation in the KRT5 gene  KRT14 gene  EXPH5 nonsense mutation
  54. 54. Histopathology  Non-specific features
  55. 55. Amyloidosis Cutis Dyschromica  Mottled, reticular, hyper- and hypopigmented macules in generalized distribution  Scattered hyperpigmented keratotic papules interspersed within dyschromic lesions  Mild pruritus in most cases  UVB- and UVC-induced damage to keratinocytes take a longer time for repair  Concomitant CTDs like systemic sclerosis, SLE, dermatomyositis and generalized morphea  Autosomal recessive inheritance pattern
  56. 56. Histopathology
  57. 57.  Familial cases were more common (77%) than sporadic cases  M:F :: 1.2 : 1  Mean age of onset in familial cases: 6 years  Mean age of onset in sporadic cases: 23 years  Clinical features of familial and sporadic ACD do not differ substantially  Mild pruritus was only symptom, and was reported in 7 cases (19%)
  58. 58.  Acitretin showed improvement in 7 out of 8 patients (87.5%)  Oral vitamin E and C, topical Tazarotene, Urea: No improvement
  59. 59.
  60. 60. Dyskeratosis congenita  Zinsser-Engman-Cole syndrome Oral leukoplakia Nail dystrophy Reticulate skin hyperpigmentation
  61. 61.  M:F :: 3:1  Reticulate pattern commonly on upper trunk  Poikilodermatous changes  Alopecia of scalp, eyebrows, and eyelashes  Hyperhidrosis  Hyperkeratosis of palms and soles and adermatoglyphia
  62. 62.  Nail dystrophy is seen in approx. 90% of patients  Mucosal leukoplakia occurs in 80% of patients and involves buccal mucosa, tongue, and oropharynx.
  63. 63. Extracutaneous Symptoms
  64. 64. Genetics  X-linked recessive, autosomal dominant, and autosomal recessive  Telomerase dysfunction  DKC1 TERT TERC
  65. 65. Treatment  Treatment available to augment bone marrow activity  G-CSF, GM-CSF, Erythropoietin, anabolic steroids, hematopoietic stem cell transplantation  Retinoids: regression of lesions in leukoplakia and reduce incidence of malignancy
  66. 66. X-linked reticulate pigmentary disorder with systemic manifestations  X-linked dominant disorder  Severe systemic manifestations in males  Generalized reticulate hyperpigmentation  Dysmorphic face with an upswept frontal hairline and arched eyebrows
  67. 67.  Recurrent respiratory infections  Failure to thrive  Severe photophobia due to corneal dyskeratosis  Severe gastrointestinal disorders  Hypohidrosis Mutation in the PDR gene in a 40 Mb interval of Xp22-p21 Histopathology show amyloid deposits in papillary dermis
  68. 68. Acquired RPDs
  69. 69. Confluent and reticulated papillomatosis of Gougerot and Carteaud  Affects young people with female predisposition  Predominantly truncal involvement  Mildly pruritic, 1-2 mm sized, erythematous to grayish-brown hyperkeratotic papules  Coalesce to form a confluent plaques centrally and reticular pattern peripherally  Various etiological factors proposed: endocrine disturbance, disorder of keratinization, an abnormal host reaction to fungi or bacteria  Increased involucrin, keratin 16, and Ki-67 expression
  70. 70. Confluent and reticulated papillomatosis of Gougerot and Carteaud
  71. 71.  n = 10 patients  Equal M: F ratio  Mean age of diagnosis: At age of 19 years  Skin lesions mainly consisted of reticulated, pigmented macules, patches and plaques  Most common site: Chest  Asymptomatic in most cases (80%)
  72. 72. Histopathological features  Hyperkeratosis, papillomatosis and variable acanthosis: 10/10 (100%)  Follicular plugging: 9/10 (90%)  Periodic acid Schiff stains highlighted yeast forms: 6/10 (60%)
  73. 73. Treatment response  Minocycline given in 5 patients with complete clearance in 3 weeks to 2 months  Oral Isotretinoin given in 1 patient with complete clearance in 2 months
  74. 74. Confluent and reticulated papillomatosis of Gougerot and Carteaud Treatment  Macrolide antibiotics are reasonable second-line interventions  Others: topical retinoids, vitamin D analogs, tacrolimus, steroids, topical selenium sulfide, 10% sodium thiosulfate, topical miconazole and PUVA therapy
  75. 75. Prurigo pigmentosa  Rare inflammatory disease of skin of uncertain etiology commonly reported from Japan  Recurrent eruptions of itchy urticarial macules, papules, vesicopapules, and plaques with a reticular arrangement  Quickly resolve leaving a net-like pigmentation
  76. 76.  Lesions are intensely pruritic and predominantly involves trunk  Many patients experience spontaneous resolution of eruptions after a few weeks  Frequent relapses
  77. 77. Histopathology Epidermis  Mild to severe spongiosis  Necrotic keratinocytes & basal cell damage  L & N exocytosis, occasionally abscess formation  Lichenoid infiltrate at dermo-epidermal juntion
  78. 78. Histopathology Dermis  Sparse P/V and interstitial infiltrate to dense deeper infiltrate
  79. 79. Treatment  Minocycline in doses ranging from 50 to 200 mg/d is most widely prescribed and is highly effective.  Doxycycline, Dapsone, Macrolides have been used with good results
  80. 80. RPD/Dyschromatosis Hyperpigmented macules Atrophic RAPK Non- atrophic DDD GENERALIZED CLASSIC NFJS DPR Both hypo- and hyperpigmented macules DSH DUH ACD Reticulate pigmentation With poikiloderma DKC Verrucous papules CARP
  81. 81. Specials Thanks Dr. Neetu Dr. Alok Dr. Mamta Dr. Neha Dr. Deepika Dr. Suman

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