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Anais Brasileiros de Dermatologia

Print version ISSN 0365-0596

An. Bras. Dermatol. vol.84 no.6 Rio de Janeiro Nov./Dec. 2009

http://dx.doi.org/10.1590/S0365-05962009000600018 

WHAT IS YOUR DIAGNOSIS?

 

Case for Diagnosis

 

 

Kleber de Sousa SilveiraI; Renata Indelicato ZacII; Patrícia Jannuzzi Vieira e OliveiraIII; Daniela Rezende NevesIV; Valéria Gomes BarbosaV; Maria Ester Massara CaféVI

IMD, specialization student in Dermatology from the Centro de Pesquisa e Pós-Graduação da Faculdade de Ciências Médicas de Minas Gerais (CPG-FCMMG) – Belo Horizonte (MG), Brazil
IIResident physician in Dermatology, Centro de Pesquisa e Pós-Graduação da Faculdade de Ciências Médicas de Minas Gerais (CPG-FCMMG) – Belo Horizonte (MG), Brazil
IIIMD, specialization student in Dermatology from the Centro de Pesquisa e Pós-Graduação da Faculdade de Ciências Médicas de Minas Gerais (CPG-FCMMG) – Belo Horizonte (MG), Brazil
IVMD, specialization student in Dermatology from the Centro de Pesquisa e Pós-Graduação da Faculdade de Ciências Médicas de Minas Gerais (CPG-FCMMG) – Belo Horizonte (MG), Brazil
VDermatologist, adjunct assistant physician at the Department of Dermatology, Santa Casa de Belo Horizonte - Belo Horizonte (MG), Brazil
VIMD, Master's degree in Dermatology, effective assistant physician at the Department of Dermatology, Santa Casa de Belo Horizonte - Belo Horizonte (MG), Brazil

Mailing Address

 

 


ABSTRACT

The case of a 9-year-old girl with a history of blistering lesions restricted to the right side of her body is described. Several family members are also affected in a symmetrical fashion. Histological examination showed acantholysis similar to a "dilapidated brick wall", corresponding to a rare presentation of mosaicism in Hailey-Hailey disease.

Keywords: acantholysis; mosaicism; pemphigus, benign familial


 

 

HISTORY OF ILLNESS

A 9-year-old mulatto female patient, with history of recurrent bullous lesions on the right side of the body since the age of 6 months. Several female relatives presented similar lesions bilaterally (Figure 1).

 

 

Upon examination, crusty lesions and residual hypochromic lesions on the feet, perianal region, buttocks, abdomen and infrascapular region, respecting the midline (Figure 2).

 

 

Histopathological exam: epidermis with bullous lesion, characterized by suprabasal clivage with elongated papillae, lined with basal cells. The Malpighi stratrum cells show acantholysis (Figure 3).

 

 

Topical treatment with association of betamethasone and gentamycin was initiated and the lesions improved.

 

COMMENTS

The Hailey-Hailey disease or benign familial pemphigus was described by the Hailey brothers, in 1939. It is a rare, autosomal dominant disease, characterized by formation of intraepidermal bullae, mainly in areas subject to friction. It is due to mutation on gene ATP2C1 on chromosome 3q21.1 Histology shows acantholysis throughout the epidermis, giving an aspect of "dilapidated brick wall".

It is well known that autosomal dominant skin diseases that usually present symmetrical and diffuse condition may also show segmental involvement, which probably corresponds to mosaicism.

Two types of manifestations of mosaicism can be identified. Type 1 mosaicism represents a post-zygotic mutation in a normal embryo, resulting in a segmental disease. In type 2 mosaicism, there is a post-zygotic mutation with loss of an allele in the locus where the embryo has an autosomal dominant mutation. It may derive from a mytotic recombination, punctual mutation, deletion or non-disjunction, with loss or reduplication of the chromosome mutation.2

There are four cases described in the literature of manifestation of mosaicism in Hailey-Hailey disease, and one is just a probable case. Out of these, three cases would correspond to type 2 mosaicism3,4 and only one patient to type 1.5 In two cases of type 2 mosaicism, only female relatives were affected, and this fact was also observed in the genealogical analysis of our patient; the possibility of X-linked inheritance was suggested3.

Our patient presents segmental manifestation of Hailey-Hailey disease, involving only her right side, with abrupt interruption of lesions in midline and affecting several generation of her family, which corresponds to type 2 mosaicism.

 

REFERENCES

1.  Paller AS. Piecing together the puzzle of cutaneous mosaicism. J Clin Invest. 2004;114:1407-9         [ Links ]

2.  Poblete-Gutiérrez P, Wiederholt T, König A, Jugert FK, Marquardt Y, Rübben A, et al. Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. J Clin Invest. 2004;114:1467-74.         [ Links ]

3.  Vakilzadeh F, Kolde G. Relapsing linear acantholytic dermatosis. Br J Dermatol. 1985;112:349-55.         [ Links ]

4.  Duschet P, Happle R, Schwarz T, Gschnait F. Relapsing linear acantholytic dermatosis. J Am Acad Dermatol. 1995;33:920-2.         [ Links ]

5.  Hwang LY, Lee JB, Richard G, Uitto JJ, Hsu S. Type 1 segmental manifestation of Hailey-Hailey disease. J Am Acad Dermatol. 2003;49:712-4.         [ Links ]

 

 

Mailing Address:
Kleber de Sousa Silveira
Av. do Corinto Crisóstomo Freire, 600 – Ap. 304,
Bloco Tulipas, Morada Parque
39401 365 Montes Claros MG
Tel.:/Fax: 31 9144 6830 / 3412-0799
E-mail: kleberdss@oi.com.br