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Familial Speckled Acral Hypopigmentation in Two Successive Generations – A Rare Case Report

Year: 2024
Type: article
Abstract: Speckled acral hypopigmentation is a rare entity. Familial cases have been reported that are similar to our case. It falls under reticulate acropigmentation disorders, along with reticulate acropigmentation of Kitamura (RAPK), reticulate acropigmentation of Dohi (RAPD), Dyscromatosis universalis hereditaria (DUH) and acromelanosis albo-punctata. Other clinical differential diagnoses include Dowling-Degos disease, congenital symmetric acral leukopathy, and Confetti macules of tuberous sclerosis. Speckled acral hypopigmentation can be differentiated by the presence of small hypopigmented macules over acral areas with clustering, the absence of hyperpigmented macules, palmar pits and neurological complaints etc. On woods lamp examination, there will be no accentuation. An increased number of macromelanosomes, both in melanocytes and keratinocytes and a decreased or normal number of melanocytes can be seen on histopathological examination. As there are very few case reports, we report one such case of Familial speckled acral hypopigmentation in two successive generations.
Authors: Preethi Reddy Kethu, Arun Kumar Metta, Harika Priya Matta, Trinadh Kusireddi, Sowri Uma Kolaka
Language: English
Subfield: Genetics
Open Access status: green
OpenAlex ID: W6930611328
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