Griscelli syndrome with malnutrition: a diagnostic challenge

Jyoti Singh; Mohammad Adil; Syed Suhail Amin; Fatima Tuz Zahra

doi:10.5114/dr.2022.117985

eISSN: 2084-9893
ISSN: 0033-2526

Dermatology Review/Przegląd Dermatologiczny

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2/2022
vol. 109

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abstract:

Case report

Griscelli syndrome with malnutrition: a diagnostic challenge

Jyoti Singh

¹

,

Mohammad Adil

¹

,

Syed Suhail Amin

¹

,

Fatima Tuz Zahra

¹

Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, India

Dermatol Rev/Przegl Dermatol 2022, 109, 142-147

DOI: https://doi.org/10.5114/dr.2022.117985

Online publish date: 2022/07/08

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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.

keywords:

Griscelli syndrome with malnutrition: a diagnostic challenge

Jyoti Singh 1 , Mohammad Adil 1 , Syed Suhail Amin 1 , Fatima Tuz Zahra 1

Griscelli syndrome, silvery hair, malnutrition, hypopigmentation

Jyoti Singh

¹

,

Mohammad Adil

¹

,

Syed Suhail Amin

¹

,

Fatima Tuz Zahra

¹