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Silvery hair with bronze-tan in a child: A case of Elejalde disease
Arun C Inamadar1, Aparna Palit
1Department of Dermatology, Venereology and Leprosy, BLDEA's SBMP Medical College, Hospital and Research Centre, Bijapur, Karnataka, India. aruninamadar@rediffmail.com
Insights
A child presented with severe neurological impairment and distinctive silvery hair, leading to a clinical diagnosis of Elejalde disease. This rare genetic disorder affects melanin distribution, causing unique hair and skin pigmentation changes.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Elejalde disease is a rare genetic disorder characterized by pigmentary abnormalities.
- Silvery-hair syndromes present with unique hair and skin manifestations, often with neurological involvement.
Observation:
- A 5-year-old boy exhibited severe neurological impairment, including hypotonia and loss of consciousness.
- Physical examination revealed characteristic silver hair and bronze-tan skin on photo-exposed areas.
- Microscopic hair examination showed irregular melanin clumping within the hair shafts.
Findings:
- The patient's presentation, coupled with a family history of similar symptoms in deceased siblings, suggested a genetic etiology.
- Normal blood counts, immunoglobulin levels, peripheral blood smears, and cerebrospinal fluid ruled out other common conditions.
- The distinct hair shaft morphology confirmed pigmentary abnormalities consistent with Elejalde disease.
Implications:
- This case highlights the diagnostic challenges and clinical spectrum of Elejalde disease.
- Understanding the overlapping features of silvery-hair syndromes is crucial for accurate diagnosis and genetic counseling.
- Further research into the genetic basis of these syndromes can lead to better management strategies.
Abstract:
A 5-year-old boy was admitted for severe neurological impairment including hypotonia and loss of consciousness without preceding febrile illness. On examination, he had silver colored hair and bronze-tan over photo-exposed body parts. He was born of consanguineous parents and three of his elder siblings, who died in early childhood, had similar colored hair. Complete blood count and serum immunoglobulin levels were within normal limits. Peripheral blood smear did not show any cytoplasmic granules in neutrophils. Cerebro-spinal fluid examination did not reveal any abnormality. Light microscopic examination of the hair revealed irregular clumping of the melanin throughout the shafts. The patient died on the second day following admission. A clinical diagnosis of Elejalde disease was made. The clinical and genetic overlapping of the three silvery-hair syndromes has been discussed.
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