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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 pigmentationhas 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 – tyrosinase–melanin- 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 earlychildhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader – 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
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- 7. Onset in earlychildhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader – 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
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- 9. Congenital genetic abnormalityof 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 OCA3OCA4 Tyr p Trp1 SLC45A2 10
- 12. LOW VISION INALBINISM A discussion of “how we see” and the nature of the visual impairment associated with albinism 12
- 13. Onset in earlychildhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader – 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
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- 16. • Chédiak-Higashi syndromeis 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 findingsof Chédiak-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 earlychildhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader – 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
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- 20. In 1959, Hermanskyand 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 earlychildhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader – 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 ofmetabolism 1. Phenylketonuria 2. Homocysteinemia
- 23. PHENYLALANINE HYDROXYLASE PHENYLALANINE Dietry sources, particularly plant proteins BODY PROTEINS BREAKDOWN (b) (a) The normal metabolismof phenylalanine (pathways a and b) TYROSINE © 2016 Paul Billiet ODWS
- 24. HYDROXYPHENYLACETIC ACID PHENYLACETIC ACID* (c) (c) The abnormal metabolismin phenylketonuric subjects (pathway c) *Agents, thought to be responsible for mental retardation PHENYLALANINE* Dietry sources, particularly plant proteins BODY PROTEINS (b) (a) PHENYLALANINE HYDROXYLASE © 2016 Paul Billiet ODWS
- 25. PKU • Untreated PKUcan 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 – it is estimated to affect 1 in every 10,000 babies
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- 28. Onset in earlychildhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader – 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 pigmentaryabnormalithy
- 30. B) With neurologicabnormalities
- 32. • Inheritance autosomal recessive ◊Type GS: GS1, GS2, GS3 ◊ 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. • ◊ Molecularbasis (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 neurologicabnormalities
- 36. C) With skeletalchanges
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- 38. Onset in earlychildhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader – 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 • Isit depigmented or hypopigmented
- 40. Onset in earlychildhood 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
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- 43. Piebaldism • Are, ADwith 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 • Abnormaltyrosine metabolism • Pigment abnormalities: heterochromic iriditis, white forelock, patchy skin depigmentation • Craniofacial abnormalities: dystopia canthorum, synophrys, flat nasal root
- 46. Waardenburg Types • TypeI: – Dystopia canthorum, pigment and craniofacial abnormalities, 20% with SNHL – Mutation in PAX3 gene • Type II: – No dystopia canthorum, 50% with SNHL but not as severe – MITF mutation
- 47. • Type III(most severe): – Unilateral ptosis and skeletal abnormalities – PAX3 mutation • Type IV: – Type II plus Hirschsprung’s disease (aganglionic megacolon)
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- 53. Onset in earlychildhood 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
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- 55. Hypopigmentation Disorders (2) Presented by Dr.Hasan Khalaf
- 56. Hypo pigmentation Causes ofhypo 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
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- 65. Purplish and slightlydepressed 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
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- 71. Treatment regimens PB Adult (6blister packs) to be taken monthly within a maximum period of 9 months Rifampicin 600 mg once a month Dapsone 100 mg every day MB Adult (12 blister packs) to be taken monthly within a maximum period of 18 months Rifampicin 600 mg once a month Clofazimine 300 mg once a month Clofazimine 50 mg and dapsone 100 mg every day SLPB Single dose ROM Rifampicin 600 mgm Ofloxacin 400 mgm Minocyclin 100 mgm
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- 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
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- 78. Linear rays ofhypopigmentation following intra-articular corticosteroid injection for post-traumatic degenerative joint disease
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- 83. A100% TCA inthe Management of Ice Pick Acne Scars.
- 85. Postinflammatory hypopigmentation due tophotosensitivity reaction to quinine
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- 96. Case Two: KOHexam The KOH exam shows short hyphae and small round spores. This is diagnostic of tinea (pityriasis) versicolor. Spores (yeast forms) Short Hyphae 96
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- 103. Onset in earlychildhood Generalized Hypopigmentation Eyes, skin & hair Oculocutaneous albinism Defects in melanin production OCA 1-4 Prader – 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 earlychildhood 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