Journal ArticleDOI
Elejalde syndrome: report of a case and review of the literature.
Juliana Burihan Cahali,Solange Assuncion Villagra Fernandez,Zilda Najjar Prado de Oliveira,Maria Cecília Rivitti Machado,Neusa Yuriko Sakai Valente,Mirian Nacagami Sotto +5 more
TLDR
A 6‐year‐old girl with Elejalde syndrome is reported and the differential diagnosis includes Griscelli and Chediak‐Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunologic dysfunction.Abstract:
Elejalde syndrome is a rare autosomal recessive condition, with only 10 reported cases through 2001. It is characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. The differential diagnosis includes Griscelli and Chediak-Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunologic dysfunction. We report a 6- year-old girl with Elejalde syndrome and review Elejalde, Griscelli, and Chediak-Higashi syndromes.read more
Citations
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A Practical Classification of Childhood Hypopigmentation Disorders
TL;DR: A clinical approach to hypopigmentation disorders based on the typical age of onset and the extent of lesions is proposed, providing a systematic approach to a clinical condition in which the causes are heterogeneous and histological examination of the skin is rarely diagnostic.
Journal Article
Chediak-Higashi Syndrome Presenting in Accelerated Phase
TL;DR: A case of a 2 years old boy with high grade fever, bilateral cervical lymphadenopathy, hepatosplenomegaly, abdominal distention of 28 days duration, diagnosed with Chediak-Higashi syndrome in accelerated phase is presented.
Journal ArticleDOI
Silvery hair with bronze-tan in a child: A case of Elejalde disease
Arun C Inamadar,Aparna Palit +1 more
TL;DR: A 5-year-old boy was admitted for severe neurological impairment including hypotonia and loss of consciousness without preceding febrile illness, and a clinical diagnosis of Elejalde disease was made.
Journal ArticleDOI
A case of silvery hair syndrome: Griscelli syndrome
TL;DR: A case of a 7-year-old girl with bronze skin and silvery hair, diagnosed as Griscelli syndrome, one of three genetic types of GS known.
References
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Book
Dermatology in general medicine
TL;DR: Introduction biology and pathophysiology of skin disorders presenting in the skin and mucous membranes dermatology and internal medicine diseases due to microbial agents therapeutics paediatric and geriatric dermatology.
Book
Textbook of dermatology
TL;DR: Diagnosis of skin disease neonate naevi and other developmental defects pruritus eczema lichenification, prurigo and erythroderma atopic dermatitis contact dermatitis irritants and sensitizers occupational dermatoses reactions to mechanical and thermal injury reactions to cold cutaneous photobiology.
Report of a case and review of the literature
TL;DR: In this paper, a case of paraganglioma of the filum terminale was presented where normal sympathetic ganglion cells were seen in conjunction with tumour cells in a well-encapsulated tumour.
Report of a Case and Review of the Literature
TL;DR: Granular cell tumor must be added to the differential diagnosis of epibulbar masses and Immunohistochemistry of the tumor in this case suggests an uncom mitted mesenchymal cell origin.
Journal ArticleDOI
Partial albinism with immunodeficiency (Griscelli syndrome)
Christoph Klein,N Philippe,Françoise Le Deist,Sylvie Fraitag,Catherine Prost,Anne Durandy,Alain Fischer,Claude Griscelli +7 more
TL;DR: It is concluded that partial albinism with immunodeficiency (Griscelli syndrome) can be differentiated from Chédiak-Higashi syndrome by pathognomonic histologic features.