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Hypopigmentation Disorders
- 1. Hypopigmentation Disorders (1) Presented by Dr. Hasan Khalaf
- 2. SKIN COLOR Determined by: - Melanin - Haemoglobin - Ccarotenoids Melanin - major determinant: Melanin is synthesized by melanocytes within melanosomes and transferred to keratinocytes > Constitutive skin colour - genetically determined > Facultative skin colour - induced by sun and hormones
- 3. AN OVERVIEW Skin pigmentation has far-reaching social and psychological implications White people strive for tanning which while brown and black people strive for a lighter skin Melanin pigmentation disorders are important for medical and cosmetic reasons
- 4. Tyrosine â tyrosinase âmelanin- this occurs in the melanosomes of melanocytes Then the melanosomes are transferred from the melanocyte to a group of keratinocytes called the epidermal melanin unit Variations in skin color is related to the number of melanosomes, the degree of melanization, and the distribution of the epidermal melanin unit
- 5. Onset in early childhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader â Wili & Angelman syndromes Defects in packaging of melanosomes Hermansky Pudlak syndrome Chediak-Higashi syndrome Inborn errors of metabolism Phenylketonuria Homocystenuria Skin & hair Genodermatoses Nutritional deficiencies Neurologic defects Griscelli Menkes Sceletal defects EEC syndrome
- 7. Onset in early childhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader â Wili & Angelman syndromes Defects in packaging of melanosomes Hermansky Pudlak syndrome Chediak-Higashi syndrome Inborn errors of metabolism Phenylketonuria Homocystenuria Skin & hair Genodermatoses Nutritional deficiencies Neurologic defects Griscelli Menkes Sceletal defects EEC syndrome
- 8. Albinism
- 9. Congenital genetic abnormality of melanin synthesis in which the amount of melanin made by the melanocyte is reduced or absent. Always includes specific abnormalities of the eye Oculocutaneous albinism, OCA1- 4 Ocular albinism, OA1 Albinism: 9
- 10. OCA1 OCA2 OCA3 OCA4 Tyr p Trp1 SLC45A2 10
- 12. LOW VISION IN ALBINISM A discussion of âhow we seeâ and the nature of the visual impairment associated with albinism 12
- 13. Onset in early childhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader â Wili & Angelman syndromes Defects in packaging of melanosomes Hermansky Pudlak syndrome Chediak-Higashi syndrome Inborn errors of metabolism Phenylketonuria Homocystenuria Skin & hair Genodermatoses Nutritional deficiencies Neurologic defects Griscelli Menkes Sceletal defects EEC syndrome
- 14. Chediak-Higashi
- 15. Chediak-Higashi
- 16. ⢠ChÊdiak-Higashi syndrome is a rare, autosomal recessive ⢠primary immunodeficiency disorder that involves phagocytic cell defects ⢠The syndrome is caused by a mutation in the LYST (lysosomal trafficking regulator; CHS1) gene. ⢠Giant lysosomal granules develop in neutrophils and other cells (eg, melanocytes, neural Schwann cells). ⢠The abnormal lysosomes cannot fuse with phagosomes, so ingested bacteria cannot be lysed normally.
- 17. ⢠Clinical findings of ChÊdiak-Higashi syndrome include oculocutaneous albinism and susceptibility to recurrent respiratory and other infections. ⢠In about 80% of patients, an accelerated phase occurs, causing fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia, bleeding diathesis, and neurologic changes. Once the accelerated phase occurs, the syndrome is usually fatal within 30 months ⢠Diagnosis is by genetic testing
- 18. Onset in early childhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader â Wili & Angelman syndromes Defects in packaging of melanosomes Hermansky Pudlak syndrome Chediak-Higashi syndrome Inborn errors of metabolism Phenylketonuria Homocystenuria Skin & hair Genodermatoses Nutritional deficiencies Neurologic defects Griscelli Menkes Sceletal defects EEC syndrome
- 20. In 1959, Hermansky and Pudlak described two patients with oculocutaneous albinism (OCA) who had bleeding diathesis. Both patients had pulmonary disease. Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of autosomal recessive disorders characterized by tyrosinase- positive oculocutaneous albinism (Ty-pos OCA), bleeding tendencies, and systemic complications associated to lysosomal dysfunction. Individuals with HPS may have pulmonary fibrosis and granuloumatos colitis
- 21. Onset in early childhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader â Wili & Angelman syndromes Defects in packaging of melanosomes Hermansky Pudlak syndrome Chediak-Higashi syndrome Inborn errors of metabolism Phenylketonuria Homocystenuria Skin & hair Genodermatoses Nutritional deficiencies Neurologic defects Griscelli Menkes Sceletal defects EEC syndrome
- 22. Inborn errors of metabolism 1. Phenylketonuria 2. Homocysteinemia
- 23. PHENYLALANINE HYDROXYLASE PHENYLALANINE Dietry sources, particularly plant proteins BODY PROTEINS BREAKDOWN (b) (a) The normal metabolism of phenylalanine (pathways a and b) TYROSINE Š 2016 Paul Billiet ODWS
- 24. HYDROXYPHENYLACETIC ACID PHENYLACETIC ACID* (c) (c) The abnormal metabolism in phenylketonuric subjects (pathway c) *Agents, thought to be responsible for mental retardation PHENYLALANINE* Dietry sources, particularly plant proteins BODY PROTEINS (b) (a) PHENYLALANINE HYDROXYLASE Š 2016 Paul Billiet ODWS
- 25. PKU ⢠Untreated PKU can lead to intellectual disability, seizures, and other serious medical problems. ⢠Patients who are diagnosed early and maintain a strict diet can have a normal life span with normal mental development. ⢠PKU is rare â it is estimated to affect 1 in every 10,000 babies
- 26. Homocysteinuria
- 28. Onset in early childhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader â Wili & Angelman syndromes Defects in packaging of melanosomes Hermansky Pudlak syndrome Chediak-Higashi syndrome Inborn errors of metabolism Phenylketonuria Homocystenuria Skin & hair Genodermatoses Nutritional deficiencies Neurologic defects Griscelli Menkes Sceletal defects EEC syndrome
- 29. A) Without eye pigmentary abnormalithy
- 30. B) With neurologic abnormalities
- 32. ⢠Inheritance autosomal recessive â Type GS: GS1, GS2, GS3 â Features (phenotype): ⢠skin and hair (GS1, GS2, GS3): pigmentary dilution of the skin silver-grey hair melanin clumps within hair shafts mature melanosomes accumulation in the centre of melanocytes ⢠neurologic system (GS1) neurologic abnormalities: developmental delay, mental retardation ⢠immunologic system (GS2) immunology abnormalities: hemophagocitic syndrome (HS)
- 33. ⢠â Molecular basis (genotype) ⢠⢠GS1: mutations in the myosin VA gene (MYO5A), which encodes the myosin VA protein (MyoVA) ⢠⢠GS2: :mutations in the Ras-associated protein RAB27A gene (RAB27A) ⢠⢠GS3: mutation in the melanophilin gene (MLPH) MLPH gene
- 34. B) With neurologic abnormalities
- 36. C) With skeletal changes
- 37. Ectrodactyly-Ectodermal Dysplasia- Cleft Lip /Palate
- 38. Onset in early childhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader â Wili & Angelman syndromes Defects in packaging of melanosomes Hermansky Pudlak syndrome Chediak-Higashi syndrome Inborn errors of metabolism Phenylketonuria Homocystenuria Skin & hair Genodermatoses Neurologic defects Griscelli Menkes Sceletal defects EEC syndrome
- 39. Localized hypopigmentation ⢠Is it depigmented or hypopigmented
- 40. Onset in early childhood Localized hypopigmentation Depigmented Vitiligo Piebaldism Waardenburg syndrome Hypopigmented Congenital Naevus anemicus Ash-leaf macule in tuberous sclerosis Naevus depigmentosus & hypomelanosis of Ito Acquired Post-inflammatory hypopigmentation
- 41. Vitiligo
- 43. Piebaldism ⢠Are, AD with variable phenotype, presenting at birth ⢠⢠Whiteforelock , patchy absence of skin pigmentation ⢠Depigmented lesions are static and occur on the anterior and posterior trunk, mid upper arm to wrist, mid-thigh to mid-calf, and shins ⢠A characteristic feature is the presence of hyper pigmented macules within the areas of lack of pigmentation and on normal skin
- 45. Waardenburg Syndrome ⢠Abnormal tyrosine metabolism ⢠Pigment abnormalities: heterochromic iriditis, white forelock, patchy skin depigmentation ⢠Craniofacial abnormalities: dystopia canthorum, synophrys, flat nasal root
- 46. Waardenburg Types ⢠Type I: â Dystopia canthorum, pigment and craniofacial abnormalities, 20% with SNHL â Mutation in PAX3 gene ⢠Type II: â No dystopia canthorum, 50% with SNHL but not as severe â MITF mutation
- 47. ⢠Type III (most severe): â Unilateral ptosis and skeletal abnormalities â PAX3 mutation ⢠Type IV: â Type II plus Hirschsprungâs disease (aganglionic megacolon)
- 50. Nevus anemicus
- 52. Ash leaf spot
- 53. Onset in early childhood Localized hypopigmentation Depigmented Vitiligo Piebaldism Waardenburg syndrome Hypopigmented Congenital Naevus anemicus Ash-leaf macule in tuberous sclerosis Naevus depigmentosus & hypomelanosis of Ito Acquired Post-inflammatory hypopigmentation
- 54. THANK YOU!
- 55. Hypopigmentation Disorders (2) Presented by Dr. Hasan Khalaf
- 56. Hypo pigmentation Causes of hypo pigmentation : 1. Genetic: circumscribed e.g. nevus depigmentosus , tuberous sclerosis diffuse e.g. albinism, phenylketonurea. 2. Endocrine: hypopituitrism , hyperthyroidism. 3. Inflammatory & post inflammatory: pityriasis alba , psoriasis , cryotherapy , tinea versicolor , DLE , morphea , leprosy , post kalazar.
- 57. 4. Chemical: antimalarial , arsenic , azelaic acid , hydroquinone , tretinoin , monobenzyle ether of hydroquinone , glucocortcoid . 5. Nutritional: mal absorption syndrome (chronic protein deficiency) , pernicious anemia , kwashiorkor , vitamin B12 deficiency . 6. Physical: burn (thermal , ionizing , UV) , trauma , post laser , post dermabrasion . 7. Un classified: vitiligo , idiopathic guttate hypo melanosis
- 59. DLE
- 62. Linear Mophea
- 63. QUIZ
- 65. Purplish and slightly depressed macular lesions on the dorsocentral region IJDVL : 2011 : 77 : 3 : 402 The involved skin showed atrophic epidermis, an increased amount of melanin in the basal cell layer, and thickened, tightly packed collagen bundles in the dermis
- 69. Leprosy
- 71. Treatment regimens ďŽPB Adult (6 blister packs) to be taken monthly within a maximum period of 9 months ďŽRifampicin 600 mg once a month ďŽDapsone 100 mg every day ďŽMB Adult (12 blister packs) to be taken monthly within a maximum period of 18 months ďŽRifampicin 600 mg once a month ďŽClofazimine 300 mg once a month ďŽClofazimine 50 mg and dapsone 100 mg every day ďŽSLPB ďŽSingle dose ROM ďŽRifampicin 600 mgm ďŽOfloxacin 400 mgm ďŽMinocyclin 100 mgm
- 73. PLC
- 74. 1.PITYRISIS LICHENOIDES CHRONICA ⢠Common type of parapsoriasis ⢠Seen in children ⢠Consists of discrete,scaly,erythematous ⢠1.Macules ⢠2.Papules ⢠Papule shows a single layer of brownish scale ⢠Removel of scale spoty hypopigmented oval macule
- 76. Pityriasis alba
- 78. Linear rays of hypopigmentation following intra-articular corticosteroid injection for post-traumatic degenerative joint disease
- 83. A100% TCA in the Management of Ice Pick Acne Scars.
- 85. Postinflammatory hypopigmentation due to photosensitivity reaction to quinine
- 88. UNESCO
- 89. UNESCO
- 90. UNESCO
- 91. UNESCO/BBC
- 94. Tinea versicolor
- 96. Case Two: KOH exam The KOH exam shows short hyphae and small round spores. This is diagnostic of tinea (pityriasis) versicolor. Spores (yeast forms) Short Hyphae 96
- 98. Pinta
- 100. onychocerciasis
- 102. Scleroderma
- 103. Onset in early childhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader â Wili & Angelman syndromes Defects in packaging of melanosomes Hermansky Pudlak syndrome Chediak-Higashi syndrome Inborn errors of metabolism Phenylketonuria Homocystenuria Skin & hair Genodermatoses Nutritional deficiencies Neurologic defects Griscelli Menkes Sceletal defects EEC syndrome
- 104. Onset in early childhood Localized hypopigmentation Depigmented Vitiligo Piebaldism Waardenburg syndrome Hypopigmented Congenital Naevus anemicus Ash-leaf macule in tuberous sclerosis Naevus depigmentosus & hypomelanosis of Ito Acquired Post-inflammatory hypopigmentation