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1.
JPAD-Journal of Pakistan Association of Dermatologists. 2015; 25 (4): 319-321
em Inglês | IMEMR | ID: emr-181151

RESUMO

Amyloidosis cutis dyschromica [ACD] is a rare form of cutaneous amyloidosis, characterized by generalized, asymptomatic hyperpigmentation intermingled with several hypopigmented spots without papulation, atrophy and telangiectasia. Its onset usually begins before puberty. We hereby describe two female siblings of ACD belonging to tribal groups with no systemic involvement. This condition should be considered as a separate entity and need to be differentiated from other variants of primary cutaneous amyloidosis.

2.
JPAD-Journal of Pakistan Association of Dermatologists. 2015; 25 (1): 62-65
em Inglês | IMEMR | ID: emr-171493

RESUMO

Pachyonychia congenita [PC] comprises a group of rare autosomal genodermatosis caused by mutation in any of the four genes KRT6A, KRT6B, KRT16 or KRT17. Classically, it is subdivided into two major variant types, PC-1 [Jadassohn-Lewandowski syndrome] and PC-2 [Jackson-Lawler syndrome]. We hereby report a case of 22-year-old, married woman with progressive thickening and discoloration of all 20 nails, multiple, hyperkeratotic lesions present all over the body with oral lesions since childhood. She had a 2-month-old male baby [the only child] who presented with similar lesions of yellowish discoloration and nail thickening of both nails and foot since birth. She was diagnosed as PC type 1


Assuntos
Adulto Jovem , Paquioníquia Congênita/patologia , Paquioníquia Congênita/genética , Ceratodermia Palmar e Plantar
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