Hailey-Hailey disease masquerading as condyloma acuminatum - Case report and novel mutation analysis

Yi Chen Liao, Yu-Yun Lee, Sheau-Chiou Chao, Ming Yu Lee, Ho Hsing Chang

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Familial benign chronic pemphigus, (Hailey-Hailey disease, HHD, OMIM 169600), first described by Hailey brothers, is an autosomal dominant inherited skin disorder characterized by recurrent blistering predominantly over neck, groin and axillary areas. Histopathologically, defects in cell-to-cell adhesion in suprabasal layers of the epidermis (acantholysis) are characterized. Mutation in ATP2C1, the gene encoding a novel P-type Ca 2+ -transport ATPase, was recently found to cause Hailey-Hailey disease. Here we presented a 29-year-old male patient who suffered a verrucous plaque over anal orifice and perianal area with pruritus and mild painful sensation for more than one year. Condyloma acuminata was diagnosed at private clinics and different kinds of therapies were applied but in vain. Histopathology showed suprabasal cleft with extensive acantholysis, indicating "Hailey-Hailey disease". No other skin lesions and no family history were contributed. Mutation analysis of ATP2C1 gene revealed a novel insertion mutation (1230insACACA).

Original languageEnglish
Pages (from-to)101-104
Number of pages4
JournalDermatologica Sinica
Volume23
Issue number2
Publication statusPublished - 2005 Jun 1

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Benign Familial Pemphigus
Condylomata Acuminata
Acantholysis
Mutation
Genetic Databases
Skin
Groin
Insertional Mutagenesis
Pruritus
Epidermis
Cell Adhesion
Genes
Adenosine Triphosphatases
Siblings
Neck

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

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title = "Hailey-Hailey disease masquerading as condyloma acuminatum - Case report and novel mutation analysis",
abstract = "Familial benign chronic pemphigus, (Hailey-Hailey disease, HHD, OMIM 169600), first described by Hailey brothers, is an autosomal dominant inherited skin disorder characterized by recurrent blistering predominantly over neck, groin and axillary areas. Histopathologically, defects in cell-to-cell adhesion in suprabasal layers of the epidermis (acantholysis) are characterized. Mutation in ATP2C1, the gene encoding a novel P-type Ca 2+ -transport ATPase, was recently found to cause Hailey-Hailey disease. Here we presented a 29-year-old male patient who suffered a verrucous plaque over anal orifice and perianal area with pruritus and mild painful sensation for more than one year. Condyloma acuminata was diagnosed at private clinics and different kinds of therapies were applied but in vain. Histopathology showed suprabasal cleft with extensive acantholysis, indicating {"}Hailey-Hailey disease{"}. No other skin lesions and no family history were contributed. Mutation analysis of ATP2C1 gene revealed a novel insertion mutation (1230insACACA).",
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Hailey-Hailey disease masquerading as condyloma acuminatum - Case report and novel mutation analysis. / Liao, Yi Chen; Lee, Yu-Yun; Chao, Sheau-Chiou; Lee, Ming Yu; Chang, Ho Hsing.

In: Dermatologica Sinica, Vol. 23, No. 2, 01.06.2005, p. 101-104.

Research output: Contribution to journalArticle

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