Elejalde Syndrome Revisited

Lambert, Jo

doi:10.1001/archderm.136.1.120

Cited by 9 publications

(8 citation statements)

References 7 publications

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“…8,9 Albinism comprises a group of hereditary disorders in which defective genes participate in the melanin synthesis pathway; while the pigmentary alterations in CHS and GPS depend on impaired transference of melanosomes from melanocytes to keratinocytes due to mutations in some genes regulating intracellular organelle transport. 10,11 Because of these molecular differences between albinism and CHS/GPS, the two latter entities are preferably designated as "silvery hair syndromes". [10][11][12] Chédiak-Higashi syndrome (OMIM #214500) is a very rare systemic disorder, inherited as an autosomal recessive trait.…”

Section: Discussionmentioning

confidence: 99%

“…10,11 Because of these molecular differences between albinism and CHS/GPS, the two latter entities are preferably designated as "silvery hair syndromes". [10][11][12] Chédiak-Higashi syndrome (OMIM #214500) is a very rare systemic disorder, inherited as an autosomal recessive trait. 13 Parental consanguinity is frequently reported in affected patients, 12,14 but this was only confirmed in case 1 of our series.…”

Section: Discussionmentioning

confidence: 99%

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Polarized Light Microscopy of Hair Shafts Aids in the Differential Diagnosis of Chédiak-Higashi and Griscelli-Prunieras Syndromes

Valente¹,

Machado²,

Boggio³

et al. 2006

Clinics

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Grumach AS and Oliveira ZNP. Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes. Clinics. 2006;61(4):327-32. PURPOSE:To study and compare the appearance of hairs from patients with Chédiak-Higashi and Griscelli-Prunieras syndromes under light and polarized light microscopy. METHOD: Hairs from 2 Chédiak-Higashi and 2 Griscelli-Prunieras patients were obtained and examined under normal and polarized light microscopy. RESULTS: Under light microscopy, hairs from Chédiak-Higashi patients presented evenly distributed, regular melanin granules, larger than those seen in normal hairs. Under polarized light microscopy, shafts exhibited a bright and polychromatic refringence appearance. In contrast, hair from Griscelli-Prunieras patients, under light microscopy, exhibited bigger and irregular melanin granules, distributed mainly near the medulla. Under polarized light microscopy, shafts appeared monotonously white. CONCLUSION: Light microscopic examination of hair shafts of patients with Chédiak-Higashi or Griscelli-Prunieras syndrome reveals subtle differences that are useful in identifying both disorders, but not in distinguishing between them. We provide evidence that polarized light microscopy of hair shafts, an approach that has not been previously described, aids in differentiating between these syndromes. We propose hair study by polarized light microscopy as a helpful complementary diagnostic method for differential diagnosis between CHS and GPS, especially when the more sophisticated molecular studies are not available.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Polarized Light Microscopy of Hair Shafts Aids in the Differential Diagnosis of Chédiak-Higashi and Griscelli-Prunieras Syndromes

Valente¹,

Machado²,

Boggio³

et al. 2006

Clinics

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“…[6] Children with the Elejalde syndrome have a similar clinical presentation, with silvery hair and neurological impairment, but lack immunological problems. [7] Other genetic disorders with associated pigmentary dilution of the skin are Cross syndrome, Woolf syndrome, Prader-Willi and Angelman syndrome. Cross syndrome is a very rare oculocerebral syndrome defined by generalised hypopigmentation, psychomotor impairment, growth retardation and progressive neurological manifestations.…”

Section: Diffuse Hypomelanosesmentioning

confidence: 99%

Hypomelanoses in children

Geel

Speeckaert

Chevolet

et al. 2013

J Cutan Aesthet Surg

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Hypomelanosis of the skin is a frequently encountered problem in childhood, being totally innocent or representing the first sign of a multisystem disorder. Medical history, clinical examination, Wood’s light investigation, histological analysis of the skin and a multidisciplinary consultation can contribute to a correct and early diagnosis of the different types of hypopigmentations. In the present paper, we present a systematic clinical approach to the differential diagnosis of those skin disorders.

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“…The silvery hair syndromes have misleadingly been referred to as partial albinism syndromes. They resemble albinism, but hypopigmentation is the result of a failure to transfer melanin to keratinocytes as a result of impaired melanosome transport (4).…”

Section: Discussionmentioning

confidence: 99%

Elejalde Syndrome: Report of a Case and Review of the Literature

Cahali

Fernandez

Oliveira

et al. 2004

Pediatric Dermatology

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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.

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Elejalde Syndrome Revisited

Cited by 9 publications

References 7 publications

Polarized Light Microscopy of Hair Shafts Aids in the Differential Diagnosis of Chédiak-Higashi and Griscelli-Prunieras Syndromes

Polarized Light Microscopy of Hair Shafts Aids in the Differential Diagnosis of Chédiak-Higashi and Griscelli-Prunieras Syndromes

Hypomelanoses in children

Elejalde Syndrome: Report of a Case and Review of the Literature

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