Indian Journal of Dermatology
: 2019  |  Volume : 64  |  Issue : 4  |  Page : 338-

Familial speckled acral hypopigmentation

Hari Shivaram Pathave, Uday Sharadchandra Khopkar 
 Department of Dermatology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India

Correspondence Address:
Hari Shivaram Pathave
Department of Dermatology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra

How to cite this article:
Pathave HS, Khopkar US. Familial speckled acral hypopigmentation.Indian J Dermatol 2019;64:338-338

How to cite this URL:
Pathave HS, Khopkar US. Familial speckled acral hypopigmentation. Indian J Dermatol [serial online] 2019 [cited 2022 Aug 8 ];64:338-338
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Familial speckled acral hypopigmentation (FSAH) is a rare pattern of acropigmentation. Herein, we present a case of FSAH in a 25-year-old unmarried male.

A 25-year-old man, born of non-consanguineous parents, presented with asymptomatic small white spots on the hands and feet. Two years ago, he noticed light colored spots on the sides and dorsa of his fingers and toes. In due course, similar few spots appeared on palms and dorsa of hands and feet. On enquiry he informed that his father had similar lesions but was not available for examination as he stayed in interior of Maharashtra. There was no history of any preceding dermatoses, drug intake, systemic illness, or exposure to chemicals including phenolic detergents.

Cutaneous examination revealed multiple speckled hypopigmented macules of more or less uniform size (2-4 mm) on sides and dorsa of hands and feet, only a few on palms [Figure 1] and [Figure 2]. No other site was involved. Thorough systemic examination did not show any abnormalities.{Figure 1}{Figure 2}

Punch biopsy from hypopigmented macule showed reduction in the number of melanocytes, reduced melanin pigment in the melanocytes and keratinocytes [Figure 3]. Rest of the epidermis and dermis was unremarkable. Furthermore, immunohistochemical staining with Melan A showed reduction in the melanocyte number with shorter and fewer dendrites in the melanocytes in basal layer of epidermis with decreased activity of melanocytes and decreased transfer of melanin from melanocytes to keratinocytes [Figure 4].{Figure 3}{Figure 4}

FSAH is first described by Malakar et al. in 2005 in a patient from West Bengal.[1] It presents as speckled hypopigmentation on the sides of the dorsa of the hands and feet.

As FSAH presents with asymptomatic small hypopigmented macules in a speckled pattern on acral areas, it is a clinical differential diagnosis of hypopigmented variants of reticulate acropigmentation. A combination of angulated, non-atrophic, dark brown, freckle-like macules and non-atrophic depigmented macules over the dorsa of the hands without any palmar pits are the main features of Reticulate Acropigmentation of Dohi (RAPD). Such macules are seen all over the body in Dyscromatosis universalis hereditaria (DUH).[2] Other condition with reticulate acropigmentation is Reticulate Acropigmentation of Kitamura (RAPK) and that is characterised by multiple, hyperpigmented, irregularly angulated, atrophic macules of 1-5 mm in size over the dorsa of hands and feet, the sides of the neck, and occasionally on the face in a symmetrical distribution.[3],[4] Palmar pits and breaks in an epidermal ridge pattern are characteristic of RAPK.[3] However, hypopigmented macules are absent in RAPK.

Histopathologically, FSAH shows marked reduction in the number of melanocyte without any other remarkable changes. Hypopigmented lesions of RAPD/DUH usually show reduced basal pigmentation, pigment incontinence, mild hyperkeratosis and sometimes there is reduction in the number of melanocytes.[5]

To the best of our knowledge, this is the third case of FSAH. Our patient did not have additional features or hyperpigmentation consistent with other entities, but he has family history of similar features in his father. The defining characteristic of this new entity is speckled and reticulate hypopigmentation confined to the lateral surfaces of soles, palms and dorsa of the hands and feet. Awareness of this entity helps in distinguishing it from guttate vitiligo thus alleviating patient anxiety. Further cases with genetic testing are needed to establish it as a distinct entity.

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1Malakar S, Sarma N, Lahiri K, Bhadra R. Familial speckled acral hypopigmentation: A new variant of reticulate acropigmentation? Indian J Dermatol Venereol Leprol 2005;71:131-3.
2Dhar S, Malakar S. Localised dyschromatosis universalis heredetaria. Pediatr Dermatol 1999;16:336.
3Griffiths WA. Reticulate pigmentary disorders-A review. Clin Exp Dermatol 1984;9:439-50.
4Dhar S, Kanwar AJ, Jebraili RE, Dawn G, Das A. Spectrum of reticulate and acral pigmentary disorders in northern India. J Dermatol 1994;2:598-603.
5Patterson JW. Disorders of pigmentation. In: Weedon's Skin Pathology. 4th ed. London: Churchill Livingstone Elsevier; 2015. p. 334.