Ochronosis = التمعر

Ochronosis = التمعر  ALKAPTONURIA      (ochronosis).     Alkaptonuria , or homogentisic acid oxidase (HGO) deficiency, is a rare metabolic disorder. Excessive homogentisic acid (HGA) is excreted in the urine, which often turns dark, and HGA accumulates in connective tissues, including the dermis49 (ochronosis). Epidemiology Alkaptonuria is inherited as an autosomal recessive trait. Pedigrees suggestive […]

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Oculocutaneous albinism = النصوع العيني الجلدي

Oculocutaneous albinism = النصوع العيني الجلدي Albinism -and Other   Genetic Disorders of    Pigmentation   Epidemiology of Albinism Oculocutaneous albinism (OCA) is the most common inherited disorder of generalized hypopigmentation, with an estimated frequency of 1 in 20,000 in most populations. Four different types of OCA have been described. OCA types 1 and 2 […]

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Onchocerciasis = داء كلابية الذنب

Onchocerciasis = داء كلابية الذنب Onchocerciasis Several different skin manifestations can become apparent during the course of onchocerciasis. Onchocercal depigmentation or “leopard skin” is rarely associated with pruritus and is one of the most common skin manifestations of onchocerciasis. Hypopigmented patches with perifollicular spots of normally pigmented skin, typically occur symmetrically on the pretibial area […]

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