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Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP
- Source :
- Journal of the European Academy of Dermatology and Venereology. 36:472-479
- Publication Year :
- 2021
- Publisher :
- Wiley, 2021.
-
Abstract
- BACKGROUND Germline autosomal dominant and autosomal recessive mutations in PERP encoding p53 effector related to PMP-22 (PERP), a component of epidermal desmosomes, have been associated with a spectrum of keratodermas. Monoallelic nonsense mutations cause Olmsted syndrome with severe periorificial and palmoplantar keratoderma (PPK). Biallelic recessive frameshift and missense mutations are associated with milder forms of the disease, including generalized erythrokeratoderma and PPK. OBJECTIVES To add new insights into the genotype-phenotype correlations as a consequence of PERP mutations and to provide a comprehensive review of the literature. METHODS Among 26 previously unresolved families within a cohort of 180 extended Iranian families with syndromic or nonsyndromic ichthyosis, two families with shared clinical features were examined by whole-exome sequencing (WES) and genome-wide homozygosity mapping (HM). Mycological and dermatopathological studies were performed to further characterize their atypical phenotypic presentations. RESULTS In two unrelated multiplex consanguineous families affected by ichthyosis, two novel biallelic PERP variants, NM_022121.5, c.89T>C, p.Leu30Pro and c.466G>C, p.Gly156Arg, located inside of genomic homozygosity regions of the probands were detected. Interestingly, some patients had areas of scaly psoriasiform plaques on a background of generalized ichthyosis that appeared during active cutaneous fungal infections. Mycological examinations of these lesions revealed infections caused by Candida albicans, Epidermophyton floccosum, or Trichophyton rubrum. Histopathology of the psoriasiform lesions shared some features with psoriasis, which when combined with clinical presentation, led to incorrect diagnoses of guttate psoriasis or pustular psoriasis. CONCLUSIONS PERP variants in ichthyosis patients can confer susceptibility to recalcitrant cutaneous fungal infections. Additionally, patients with episodic psoriasiform dermatitis in the setting of keratoderma should be considered for PERP genotyping and cutaneous fungal examinations.
- Subjects :
- medicine.medical_specialty
business.industry
Ichthyosis
Nonsense mutation
Eczema
Membrane Proteins
Dermatology
Iran
Disease gene identification
medicine.disease
Pedigree
Infectious Diseases
Palmoplantar keratoderma
Mycoses
Psoriasis
Mutation
Humans
Medicine
Genes, Tumor Suppressor
business
Keratoderma
Psoriasiform Dermatitis
Guttate psoriasis
Subjects
Details
- ISSN :
- 14683083 and 09269959
- Volume :
- 36
- Database :
- OpenAIRE
- Journal :
- Journal of the European Academy of Dermatology and Venereology
- Accession number :
- edsair.doi.dedup.....8f76df19f805b48bac4eb0fdd5144c3b
- Full Text :
- https://doi.org/10.1111/jdv.17856