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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

Figure 3

(A) In a skin biopsy sample from the proband, keratinocytic origin of amyloid was demonstrated by immunohistochemistry for high molecular weight cytokeratin, which showed extensive deposition of amyloid in the papillary and superficial reticular dermis. The dermal deposits showed positivity with Congo red staining and apple green birefringence was apparent in the expanded papillary dermis with polarization. Additionally, fissured amphophilic globules were observed, containing scattered melanophages and extending into the superficial reticular dermis (not shown). (B) Peripheral blood smear demonstrating polymorphonuclear leukocytes with enlarged, variably-sized cytoplasmic granules (Wright Giemsa, oil immersion).

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172