Griscelli syndrome with malnutrition: a diagnostic challenge

Autor:	Jyoti Singh, Mohammad Adil, Syed Suhail Amin, Fatima Tuz Zahra
Jazyk:	English<br />Polish
Rok vydání:	2022
Předmět:	griscelli syndrome silvery hair malnutrition hypopigmentation. Medicine Dermatology RL1-803
Zdroj:	Przegląd Dermatologiczny, Vol 109, Iss 2, Pp 142-147 (2022)
Druh dokumentu:	article
ISSN:	0033-2526 2084-9893
DOI:	10.5114/dr.2022.117985
Popis:	Griscelli syndrome is a rare autosomal recessive disorder characterized by hypopigmentation of skin and hair. Griscelli syndrome type 2, one of the three subtypes of Griscelli syndrome, is characterized by recurrent infections, in addition to pigmentary abnormalities. We present the case of a 15-year-old girl with late onset of Griscelli syndrome type 2 features: pigmentary changes of hair and skin, hepatosplenomegaly, pancreatitis and pancytopenia. We also highlight the diagnostic dilemma in patients with coexisting features of malnutrition. Both conditions show some overlapping clinical features and hence, establishing a diagnosis may be challenging.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/d6ccd7d4dcb746bf9782bd26eb8d030e Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF