A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome –type 3
نویسندگان
چکیده
منابع مشابه
Case Report: Griscelli Syndrome – A Unique Pigmentary Defect
Griscelli syndrome is a rare disorder with hypomelanosis of skin, silvery-gray hair due to abnormal melanosomal trafficking in melanocytes. It is caused by mutations in 3 genes: MYO5A, RAB-27A, MLPH (Melanophilin) and accordingly classified into 3 subtypes: GS1, GS2 and GS3 respectively. These 3 proteins interact and together form heterotrimeric complex responsible for intracellular vesicular t...
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We report on an 11 year-old boy with dyskeratosis congenita who presented with dystrophic nails, dysphagia, hyperpigmentation and oral leukoplakia. He had a brother who died 14 years earlier with similar presenting symptoms and aplastic anaemia. Genetic studies of our patient demonstrated the presence of a DKC1 mutation and confirmed our diagnosis. Further genetic screening revealed that his mo...
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470 Seckel syndrome (SCKL) is an extremely rare form of primordial dwarfism characterized by growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, and skeletal malformations [1–4]. In this review, two siblings with a combination of clinical, skeletal, ocular, dental and cytogenetic findings are presented in view of...
متن کاملGriscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum
Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with ...
متن کاملHL-A Identical Siblings
communication). Appleyard (1968) showed that babies born after an anoxic delivery developed a significant lowering of the Thrombotest at 24 hours compared with those who were not anoxic during delivery. Possibly the lowered Thrombotest is associated with liver damage due to hypoxia; however, more probably the infants had some degree of disseminated intravascular coagulation resulting from the m...
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ژورنال
عنوان ژورنال: Dermatology Online Journal
سال: 2014
ISSN: 1087-2108
DOI: 10.5070/d3207023127