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11 Cards in this Set

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Clinical Greiscelli Syndrome

Inheritance
Autosomal recessive
Preanatal
Fetal scalp biopsy at 21 weeks' gestation: hair evaluation; fetal blood sample: leukocyte evaluation DNA analysis
Incidence
Rare less than 40 cases reported; M=F
Age at Presentation
First year of life
Pathogenesis
Mutations in gene encoding for myosin Va or RAB27a, proteins involved in organelle trafficking and membrane transport; melanophilin gene mutations also implicated in a subset of patients
Clinical
Skin
Pigmentary dilution; cutaneous pyogenic infections, abscesses

Hair
Silver gray hair, eyebrows, eyelashes

Hematologic
Neutropenia, thrombocytopenia, without leukocyte inclusions

Immunologic
Lymphohistiocytic infiltration leading to hepatosplenomegaly, combined T and B cell immunodeficiency; accelerated lymphoma like phase (i.e., Chediak H igashi) often occurs

infectious Disease
Episodic fever with/without infection, pyogenic systemic infections

Neurologic
Progressive deterioration with hypotonia, psychomotor retardation, seizures
D/Dx
Chediak Higashi syndrome (p. 62) Elejalde syndrome Chronic granulomatous disease (p. 258) OCA2
Lab
Hair uneven clumps of melanin in medulla of hair shaft on light microscopy Complete blood count (CBC) absent cytoplasmic inclusion bodies in neutrophils
Management
Referral to hematology oncology bone marrow transplant Referral to infectious disease
Referral to neurologist Referral to dermatology assist in diagnosis
Prognosis
Progressive deterioration may be aborted with bone marrow transplantation