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On-line version ISSN 1806-4841
An. Bras. Dermatol. vol.86 no.4 Rio de Janeiro July/Aug. 2011
SYNDROME IN QUESTION
Do you know this syndrome?*
Tatiana Mara CostellaI; Ney RomitiII; José Roberto Paes de AlmeidaIII; Sandra Lopes Mattos e DinatoIV; Ângelo SementilliV; Thais Pacheco Lessa CiofiVI
ISpecialist in clinical medicine; Dermatology Intern at Fundação Lusiada (UNILUS), São Paulo (SP), Brazil
IISenior Professor of Dermatology, Fundação Lusiada (UNILUS), São Paulo (SP), Brazil
IIIMaster's Degree in Dermatology awarded by the Federal University of São Paulo (UNIFESP), São Paulo (SP), Brazil
IVPhD, Professor of Dermatology, Faculty of Medicine,University of São Paulo (FMUSP), São Paulo (SP), Brazil
VPhD, Professor of Anatomical Pathology, Federal University of São Paulo (UNIFESP), São Paulo (SP), Brazil
VIDermatology Intern at Fundação Lusiada (UNILUS), São Paulo (SP), Brazil
Report on the case of a patient with a combination of multiple uterine and dermatoleiomiomas and uterine miomatosis of long evolution. It is a rarely diagnosed disease known as Reed's syndrome. The study highlights the requirement for, and importance of, systemic investigation for kidney cancer, which is related to the syndrome.
A 40-year-old white female presented with brown papules of varying sizes and fibroelastic consistency on the upper limbs and upper trunk that she had had for over 20 years. The lesions had grown more painful over the previous 2 years due to exposure to cold weather. She denied any improvement with the use of nifedipine. Had previous history of hysterectomy for uterine fibroids. CT screening was conducted in search of kidney cancer but nothing abnormal was detected.
Reed's syndrome (RS) is an autosomal dominant disorder with incomplete penetrance, characterized by cutaneous and uterine leiomyomas 1. It was first described in 1954 in a woman of 45 years. 2
The dermatological manifestation of RS is the presence of cutaneous leiomyomas, benign tumors consisting of fine muscle fibers emerging from the erector muscles of hair, from the genital dartos muscle or from the fine vein muscles. The tumors are characterized clinically as skin-colored or pinkish-brown papules or nodules, with a varied morphology and 0.2 to 2.0 cm in diameter. They may be single or multiple, asymptomatic or painful when pressed or subjected to cold. 3
Cutaneous leiomyomas are divided into three categories: piloleiomiomas, from the hair erector muscles; angioleiomiomas, which originate from vascular smooth muscle; and dartoide leiomyomas, originating from the dartos muscle of the genitalia, areola and nipple. 4 Cutaneous leiomyomas generally affect the extremities, particularly the extensor surfaces, followed by the trunk, face and neck. They present as firm erythematous or erythematous-brownish, intradermal nodules adhering to the skin but not to deep tissues. 5
The combination of familial multiple piloleiomiomas with uterine leiomyomas is known as leiomyomatosis cutis et uteri or Reed's syndrome. 6 In these cases, erythrocytosis can result from erythropoietic activity of the tumor. 5
The predisposition to RS was located on chromosome 1q42.3-43 in the gene encoding fumarate hydratase. This enzyme catalyzes the conversion of fumarate to malate in the Krebs Cycle, but it is believed that it also acts as a suppressor of tumor genes. 7 Several different mutations in this fumarate hydratase gene have been described.
The link between this syndrome and renal cell carcinoma has recently been highlighted. 8.9 However it should be noted that no definitive association was found between the type and location of the mutation and the risk of developing renal cell carcinoma. Isolated cases have been reported linked to endocrine neoplasia type I, 10 to rheumatoid arthritis, 10 and to breast and prostate cancer. 11The fact that the number of leiomyomas is significantly higher in women than in men suggests a hormonal influence. There are no other known genetic or environmental factors. 12
In histopathology, discrete bundles of muscle fibers intermingled with collagen can be seen in the dermis. These muscle fibers consist of cells with elon 13 gated nuclei and eosinophilic cytoplasm. 13 Immunohistochemical analysis of cutaneous leiomyomas, unlke the uterine leiomyomas, showed no estrogen or progesterone receptors. 7
Treatment is symptomatic. Excision of painful or unsightly lesions can be performed providing they are small in number. For more extensive and symptomatic cases drugs can be used to block calcium influx to the smooth muscle, such as nifedipine (starter dose of 30mg in three equal doses). Gabapentin, used to relieve chronic neuropathic pain, has been a good therapeutic option which triggers fewer side effects. 14 Electrocoagulation and cryotherapy have been shown to be ineffective. Recurrences are frequent, particularly in patients with multiple lesions. However, it is argued that recurrence might result from partially excised or new lesions. 5
The Brazilian literature carries little information about Reed's syndrome.
1. Zanardi D, Nunes DH, Pacheco AS, Tubone MQ, Souza Filho JJ. Avaliação dos métodos diagnósticos para onicomicose. An Bras Dermatol. 2008;83:119-24. [ Links ]
2. Martins EA, Guerrer LV, Cunha KC, Soares MMCN, Almeida MTG. Onicomicose: estudo clínico, epidemiológico micológico no município de São José do Rio Preto. Rev Soc Bras Med Trop. 2007;40:596-8. [ Links ]
3. Sidrim CJJ, Rocha MFG. Micologia Médica à luz de autores contemporâneos. 6 ed. Rio de Janeiro. Guanabara Koogan; 2004. [ Links ]
4. Siqueira ER, Ferreira JC, Maffei CML, Candido RC. Ocorrência de dermatófitos em amostras de unhas, pés e mãos coletadas de estudantes universitários. Rev Soc Bras Med Trop. 2006;39:269-71. [ Links ]
5. Shemer A, Nathansohn N, Trau H, Amichai B, Grunwald MH. Ciclopirox nail lacquer for the treatment of onychomycosis: an open non-comparative study. J Dermatol. 2010;37:137-139. [ Links ]
6. Schaller M, Borelli C, Berger U, Walker B, Schmidt S, Weindl G, Jackel A.Susceptibility testing of morolfine, bifonazole and ciclopiroxolamine against Trichophyton rubrum in an in vitro model of dermatophyte nail infection . Med Mycol. 2009;47:753-8. [ Links ]
7. Higa DR, Cese PC, Falcão RMM, Cese AC, Chang MR, Borges FS, et al. Efeito gerador de alta frequência sobre cultura de Candida tropicalis. Revista de Especialização em Fisioterapia. 2007;1:1-8. [ Links ]
8. Lake JC, Felberg S, Malavazzi GR, Goulart DA, Dantas MCN, Dantas PEC. Efeito terapêutico da aplicação intraocular de ozônio em modelo experimental de endoftalmite por Staphylococcus epidermidis em coelhos. Arq Bras Oftalmol. 2004;67:575-9. [ Links ]
Mailing address: Received on 08.12.2010 * Study undertaken at Fundação Lusiada (UNILUS), São Paulo (SP), Brazil.
Tatiana Mara Costella
Rua Oswaldo Cruz 197, Boqueirão
11.045-003 Santos- SP, Brazil
Approved by the Editorial Board and accepted for publication on 23.02.2010.
Conflict of interest: None
Financial funding: None
Received on 08.12.2010
* Study undertaken at Fundação Lusiada (UNILUS), São Paulo (SP), Brazil.