ABSTRACT
Piebaldism is an autosomal dominant uncommon [<1 in 20,000] congenital pigmentary disorder. Depigmented patches are present since birth. They usually remain unchanged throughout life. Vitiligo is its closest differential diagnosis. We report a unique family in which these two dissimilar depigmentations, i.e. piebaldism and vitiligo [with nevus depigmentosus], were noted in two brothers. To the best of our knowledge, this is the first report of this presentation in the literature
Subject(s)
Humans , Male , Adult , Child , Vitiligo , Hypopigmentation , Neurofibromatosis 1/diagnosis , Piebaldism/genetics , Vitiligo/geneticsABSTRACT
An infant with partial albinism was suspected to have Chediak-Higashi syndrome because two of his elder siblings had albinism and died in childhood following accelerated phase. Detailed investigations of blood, hair and skin of the proband revealed that he had Griscelli syndrome.
Subject(s)
Chediak-Higashi Syndrome/diagnosis , Codon, Nonsense , Diagnosis, Differential , Humans , Immunologic Deficiency Syndromes/genetics , Infant, Newborn , Male , Melanocytes/pathology , Piebaldism/genetics , Prognosis , rab GTP-Binding Proteins/geneticsABSTRACT
An eight month old male infant presented with recurrent infections and partial albinism. Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. The findings in skin and hair biopsies in Griscelli syndrome are distinctive.
Subject(s)
Chediak-Higashi Syndrome/diagnosis , Diagnosis, Differential , Hepatomegaly/genetics , Humans , Immunologic Deficiency Syndromes/diagnosis , Infant , Male , Pancytopenia/genetics , Piebaldism/genetics , Splenomegaly/geneticsABSTRACT
Os autores apresentam dois casos de piebaldismo (mäe e filho) e destacam os recentes trabalhos que elucidam as bases moleculares da patogênese da entidade.