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Seborrheic Distributed Papules With Palmoplantar Hyperkeratosis—Diagnosis

Seborrheic Distributed Papules With Palmoplantar Hyperkeratosis—Diagnosis Diagnosis: Ichthyosis hystrix, Curth-Macklin type. Microscopic findings and clinical findings Microscopic sections revealed papillomatosis and compact orthokeratotic hyperkeratosis. The granular layer was markedly thickened, with vacuolated keratinocytes exhibiting perinuclear edema and numerous binucleate cells. No significant epidermolysis or acantholysis was seen. Other family members had had similar clinical presentations and had previously been studied, although this information was not known at the time that the patient described herein was initially seen. Electron microscopy of skin specimens from those relatives revealed abnormal organization of keratin intermediate filaments with cytoplasmic shell formation.1 Discussion In 1954, Curth and Macklin2 classified this rare autosomal dominant genodermatosis, which presents in early childhood with massive debilitating palmoplantar keratoderma. Perinuclear shells of unbroken tonofilaments within spinous and granular layer keratinocytes are the pathognomonic ultrastructural feature. Examination using light microscopy reveals perinuclear vacuolization and formation of binucleated cells, without the histologicfeatures of epidermolytic hyperkeratosis.1,3,4 Since the histologic findings may occasionally be similar, electron microscopy may still be necessary to definitively differentiate this disorder from epidermolytic hyperkeratosis.3 The clinical differential diagnosis in the present case includes various ichthyoses (bullous congenital ichthyosiform erythroderma, maleformatio ectodermalis generalisata,5 ichthyosis hystrix gravior,4 and erythrokeratoderma variabilis6) and palmoplantar keratodermatoses. Keratosis follicularis was considered because of the patient’s prominent hyperkeratosis in an apparent seborrheic distribution as well as his autosomal dominant family history. Vohwinkel syndrome is characterized by diffuse honeycomblike palmoplantar keratoderma, starfish-shaped keratotic plaques on the dorsal aspect of the hands and feet, and interphalangeal fibrous constricting bands (pseudoainhum).7 Members of our patient’s family were once diagnosed as having Vohwinkel syndrome,8 but linkage studies of our patient and his family revealed variable tail domain (V2) mutation of keratin 1. Structural analysis uncovered a failure in keratin intermediate filament bundling, retraction of the cytoskeleton from the nucleus, and failed translocation of loricrin to the desmosomal plaques.1 The treatment of Curth-Macklin ichthyosis hystrix is difficult. Topical treatment with keratolytics has been modestly effective. So far, our patient has not responded to topical therapy alone and has declined systemic retinoid therapy to date. References 1. Sprecher EIhida-Yamamoto ABecker OM et al. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix J Invest Dermatol 2001;116511- 519PubMedGoogle ScholarCrossref 2. Curth HOMacklin MT The genetic basis of various types of ichthyosis in a family group Am J Hum Genet 1954;6371- 382PubMedGoogle Scholar 3. Brusasco ACavalli RCambiaghi STadini GBerti ECaputo R Ichthyosis Curth-Macklin: a new sporadic case with immunohistochemical study of keratin expression Arch Dermatol 1994;1301077- 1079PubMedGoogle ScholarCrossref 4. Kanerva LKarvonen JOikarinen ALauharanta JRuokonen ANiemi KM Ichthyosis hystrix (Curth-Macklin) Arch Dermatol 1984;1201218- 1223PubMedGoogle ScholarCrossref 5. Ollendurff-Curth HAllen FHSchnyder UWAnton-Lamprecht I Follow-up of a family group suffering from ichthyosis hystrix type Curth-Macklin Humangenetik 1972;1737- 48PubMedGoogle Scholar 6. Landau MCohen-Bar-Dayan MHohl D et al. Erythrokeratoderma variabilis with erythema gyratum repens–like lesions Pediatr Dermatol 2002;19285- 292PubMedGoogle ScholarCrossref 7. Solis RRDiven DGTrizna Z Vohwinkel’s syndrome in three generations J Am Acad Dermatol 2001;44376- 378PubMedGoogle ScholarCrossref 8. Cole RDMcCauley MGWay BH Vohwinkel’s keratoma hereditarium mutilans Int J Dermatol 1984;23131- 134PubMedGoogle ScholarCrossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Seborrheic Distributed Papules With Palmoplantar Hyperkeratosis—Diagnosis

Archives of Dermatology , Volume 141 (6) – Jun 1, 2005

Seborrheic Distributed Papules With Palmoplantar Hyperkeratosis—Diagnosis

Abstract

Diagnosis: Ichthyosis hystrix, Curth-Macklin type. Microscopic findings and clinical findings Microscopic sections revealed papillomatosis and compact orthokeratotic hyperkeratosis. The granular layer was markedly thickened, with vacuolated keratinocytes exhibiting perinuclear edema and numerous binucleate cells. No significant epidermolysis or acantholysis was seen. Other family members had had similar clinical presentations and had previously been studied, although this information was not...
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Publisher
American Medical Association
Copyright
Copyright © 2005 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.141.6.779-f
Publisher site
See Article on Publisher Site

Abstract

Diagnosis: Ichthyosis hystrix, Curth-Macklin type. Microscopic findings and clinical findings Microscopic sections revealed papillomatosis and compact orthokeratotic hyperkeratosis. The granular layer was markedly thickened, with vacuolated keratinocytes exhibiting perinuclear edema and numerous binucleate cells. No significant epidermolysis or acantholysis was seen. Other family members had had similar clinical presentations and had previously been studied, although this information was not known at the time that the patient described herein was initially seen. Electron microscopy of skin specimens from those relatives revealed abnormal organization of keratin intermediate filaments with cytoplasmic shell formation.1 Discussion In 1954, Curth and Macklin2 classified this rare autosomal dominant genodermatosis, which presents in early childhood with massive debilitating palmoplantar keratoderma. Perinuclear shells of unbroken tonofilaments within spinous and granular layer keratinocytes are the pathognomonic ultrastructural feature. Examination using light microscopy reveals perinuclear vacuolization and formation of binucleated cells, without the histologicfeatures of epidermolytic hyperkeratosis.1,3,4 Since the histologic findings may occasionally be similar, electron microscopy may still be necessary to definitively differentiate this disorder from epidermolytic hyperkeratosis.3 The clinical differential diagnosis in the present case includes various ichthyoses (bullous congenital ichthyosiform erythroderma, maleformatio ectodermalis generalisata,5 ichthyosis hystrix gravior,4 and erythrokeratoderma variabilis6) and palmoplantar keratodermatoses. Keratosis follicularis was considered because of the patient’s prominent hyperkeratosis in an apparent seborrheic distribution as well as his autosomal dominant family history. Vohwinkel syndrome is characterized by diffuse honeycomblike palmoplantar keratoderma, starfish-shaped keratotic plaques on the dorsal aspect of the hands and feet, and interphalangeal fibrous constricting bands (pseudoainhum).7 Members of our patient’s family were once diagnosed as having Vohwinkel syndrome,8 but linkage studies of our patient and his family revealed variable tail domain (V2) mutation of keratin 1. Structural analysis uncovered a failure in keratin intermediate filament bundling, retraction of the cytoskeleton from the nucleus, and failed translocation of loricrin to the desmosomal plaques.1 The treatment of Curth-Macklin ichthyosis hystrix is difficult. Topical treatment with keratolytics has been modestly effective. So far, our patient has not responded to topical therapy alone and has declined systemic retinoid therapy to date. References 1. Sprecher EIhida-Yamamoto ABecker OM et al. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix J Invest Dermatol 2001;116511- 519PubMedGoogle ScholarCrossref 2. Curth HOMacklin MT The genetic basis of various types of ichthyosis in a family group Am J Hum Genet 1954;6371- 382PubMedGoogle Scholar 3. Brusasco ACavalli RCambiaghi STadini GBerti ECaputo R Ichthyosis Curth-Macklin: a new sporadic case with immunohistochemical study of keratin expression Arch Dermatol 1994;1301077- 1079PubMedGoogle ScholarCrossref 4. Kanerva LKarvonen JOikarinen ALauharanta JRuokonen ANiemi KM Ichthyosis hystrix (Curth-Macklin) Arch Dermatol 1984;1201218- 1223PubMedGoogle ScholarCrossref 5. Ollendurff-Curth HAllen FHSchnyder UWAnton-Lamprecht I Follow-up of a family group suffering from ichthyosis hystrix type Curth-Macklin Humangenetik 1972;1737- 48PubMedGoogle Scholar 6. Landau MCohen-Bar-Dayan MHohl D et al. Erythrokeratoderma variabilis with erythema gyratum repens–like lesions Pediatr Dermatol 2002;19285- 292PubMedGoogle ScholarCrossref 7. Solis RRDiven DGTrizna Z Vohwinkel’s syndrome in three generations J Am Acad Dermatol 2001;44376- 378PubMedGoogle ScholarCrossref 8. Cole RDMcCauley MGWay BH Vohwinkel’s keratoma hereditarium mutilans Int J Dermatol 1984;23131- 134PubMedGoogle ScholarCrossref

Journal

Archives of DermatologyAmerican Medical Association

Published: Jun 1, 2005

Keywords: keratosis,papule

References