Continual skin peeling syndrome. An electron microscopic study

Silverman, Anne K.

doi:10.1001/archderm.122.1.71

Cited by 13 publications

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“…Cytoplasmic, intracellular splitting in the lower stratum corneum has also been observed, as well as abnormal cribriform keratohyalin granules, detected by electron microscopy, which are indicative of disturbed keratinization. In some of these patients, reduced desmosomal plaques or intracellular electron-dense globular deposits within the stratum corneum have also been observed [4,17,18]. …”

Section: Discussionmentioning

confidence: 99%

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

et al. 2012

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Generalized peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by lifelong, continuous shedding of the upper epidermis. Using whole-genome homozygozity mapping and whole-exome sequencing, we identified a novel homozygous missense mutation (c.229C>T, R77W) within the CHST8 gene, in a large consanguineous family with non-inflammatory PSS type A. CHST8 encodes a Golgi transmembrane N-acetylgalactosamine-4-O-sulfotransferase (GalNAc4-ST1), which we show by immunofluorescence staining to be expressed throughout normal epidermis. A colorimetric assay for total sulfated glycosaminoglycan (GAG) quantification, comparing human keratinocytes (CCD1106 KERTr) expressing wild type and mutant recombinant GalNAc4-ST1, revealed decreased levels of total sulfated GAGs in cells expressing mutant GalNAc4-ST1, suggesting loss of function. Western blotting revealed lower expression levels of mutant recombinant GalNAc4-ST1 compared to wild type, suggesting that accelerated degradation may result in loss of function, leading to PSS type A. This is the first report describing a mutation as the cause of PSS type A.

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Section: Discussionmentioning

confidence: 99%

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

et al. 2012

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“…1 First reported by Fox 2 in 1921, PSS has been variously known as keratolysis exfoliativa congenita, deciduous skin, familial continual skin peeling, and continual skin peeling syndrome. [3][4][5] After the description of three unusual cases of congenital ichthyosiform erythroderma by Wile 6 in 1924, several reports of sporadic cases with life-long superficial peeling of large areas of skin with, or without, erythema or pruritus were reported.…”

Section: Discussionmentioning

confidence: 99%

“…In another case, intracellular, cytoplasmic splitting was noted in the lower stratum corneum. 1,5 Ultrastructural studies have revealed abnormal and cribriform keratohyalin granules in a few patients. 9 In other reports, reduced desmosomal plates or intercellular electrondense globular deposits in the stratum corneum were noted.…”

Section: Discussionmentioning

confidence: 99%

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Facial peeling skin syndrome: A case report and a brief review

Janjua¹,

Hussain

Khachemoune

2007

Int J Dermatology

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Peeling skin syndrome is an extremely rare genodermatosis of possible autosomal recessive inheritance, characterized by asymptomatic spontaneous exfoliation of the stratum corneum at a subcorneal or intracorneal level. It usually presents at birth or appears later in early childhood. The condition may be generalized or localized. Here we describe a case of localized continual skin peeling limited to the facial skin in a 6-month-old infant, with two other members of the family affected with the same condition. A few cases of localized skin peeling limited to the acral surfaces have been described in the literature, but a familial case of localized skin peeling limited to the facial skin has not been described before. We believe that our patient represents a new subtype of peeling skin syndrome, limited to the skin of the face.

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“…This is a clinically heterogeneous disorder with perpetual peeling and desquamation of the skin with or without erythroderma, first described in the 1920s [27, 28]. Since then, several reports of sporadic cases and affected sibships with life-long superficial peeling of large areas of skin with or without erythema or pruritus have emerged [29, 30, 31, 32, 33, 34]. In 1989, Traupe [3]proposed to differentiate between type A, the noninflammatory peeling skin syndrome, and type B, associated with congenital erythroderma.…”

Section: Discussionmentioning

confidence: 99%

Netherton Syndrome with Extensive Skin Peeling and Failure to Thrive due to a Homozygous Frameshift Mutation in <i>SPINK5</i>

et al. 2005

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Background: Netherton syndrome (NTS) is a rare autosomal recessive multisystem disorder characterized by congenital erythroderma and ichthyosis, hair shaft abnormalities and immune dysregulation. The disorder is caused by deleterious mutations in the SPINK5 gene, encoding the serine protease inhibitor LEKTI. Objective: Our objective was to investigate if the erythrodermic variant of peeling skin syndrome is also caused by SPINK5 mutations and to study the consequences of the disease on infantile brain development. Methods: In an infant with extensive erythroderma, peeling skin and failure to thrive, we analyzed the SPINK5 gene for pathogenic mutations by direct DNA sequencing and performed repeated brain MRI studies with diffusion-weighted imaging. Results: We identified a homozygous 4-base-pair insertion in exon 5 of SPINK5, which introduces a premature termination codon and appears to be a common mutation among West Indies islanders. MRI analyses revealed a persistent diffuse volume loss. Conclusion: Our results confirm that early truncation mutations of the coding sequence of SPINK5 produce a severe phenotype and that generalized peeling skin is one of the manifestations of NTS. We further demonstrate for the first time that NTS may be associated with MRI abnormalities indicative of a permanent tissue injury of the brain.

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Continual skin peeling syndrome. An electron microscopic study

Cited by 13 publications

References 0 publications

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

Facial peeling skin syndrome: A case report and a brief review

Netherton Syndrome with Extensive Skin Peeling and Failure to Thrive due to a Homozygous Frameshift Mutation in <i>SPINK5</i>

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