Do you know this syndrome?

Abstracts

A síndrome de Brooke-Spiegler é uma doença autossômica dominante, caracterizada pelo aparecimento de neoplasias de anexos cutâneos, habitualmente tricoepiteliomas e cilindromas. Ocorre, em geral, na segunda e terceira décadas de vida. A histopatologia revela uma ampla gama de tumores, com diferenciação écrina, apócrina, folicular e sebácea. O tratamento pode ser feito por excisão cirúrgica, laser, crioterapia, eletrofulguração e dermabrasão. Em razão do risco de malignidade, há necessidade de um bom acompanhamento clínico e aconselhamento genético.

Carcinoma adenóide cístico; Neoplasias cutâneas; Neoplasias das glândulas sebáceas

SYNDROME IN QUESTION

Do you know this syndrome?

José Napoleão Tavares Parente^I; Antonio Pedro Mendes Schettini^II; Cesare Massone^III; Ronald Tavares Parente^IV; Renata Almeida Schettini^V

^IResident Physician (3rd Year in Dermatology), Fundação de Dermatologia e Venereologia "Alfredo da Matta" – Manaus (AM), Brazil

^IIDermatologist (Master in Tropical Pathology), Fundação de Dermatologia e Venereologia "Alfredo da Matta" – Manaus (AM), Brazil

^IIIAssociate Professor, Department of Dermatology, Universidade Médica de Graz, Austria

^IVUndergraduate, School of Medicine, Centro Universitário do Maranhão (UNICEUMA) – São Luís (MA), Brazil

^VResident Physician (R2 in Dermatology), Fundação de Dermatologia e Venereologia "Alfredo da Matta" – Manaus (AM), Brazil

^{Mailing Address}

ABSTRACT

Brooke-Spiegler syndrome is an autosomal dominant inherited disease with predisposition to cutaneous adnexal neoplasms, most commonly cylindromas and trichoepitheliomas. Its onset is in the second or third decades of life. The histopathological exams of the lesions revealed a plethora of benign adnexal neoplasms, showing apocrine, follicular, and sebaceous differentiation. The treatment can be performed by excisional surgery, laser, cryotherapy, electrofulguration and dermabrasion. Due to the risk of malignancy, there is the need for clinical follow-up and genetic counseling.

Keywords: Adenoid cystic carcinoma; Sebaceous gland neoplasms; Skin neoplasms

CASE REPORT

Male Caucasian 65-year old married patient, retired, born in Manaus, came to the ambulatory of dermatology complaining of hardened asymptomatic tumor on the face and back that had started in puberty. He reported progressive increase in the number of lesions for the past twenty years. Mother and daughter had similar lesions.

His dermatological examination showed multiple papules and skin-colored nodules recovered by telangectasias, located on the nasogenial sulcus and bilateral periorbital region (Figure 1). There were also sessile nodular lesions, skin-colored, on the scapular region (Figure 2).

The remaining organs and systems had no abnormalities. Biochemical exams, chest x-ray, abdominal ultrasound and thyroid were normal. Biopsies of the nasogenial sulcus lesions (Figures 3 and 4) and dorsum (Figure 5 and 6) were made and the clinical pathology exam evidenced, respectively:

WHAT SYNDROME IS IT?

Brooke–Spiegler Syndrome

Brooke-Spiegler syndrome is characterized by subjects who have genetic predisposition, autosomal dominant inheritance, to develop skin adnexal tumors, normally cylindromas and trichoepitheliomas. In general, it affects patients on the second and third decades of life and women are more affected than men. In practice, it is observed that patients develop a broad range of tumors with eccrine, apocrine, follicular and sebaceous differentiation and sometimes the same tumor has different cell groups with many differentiations, such as for example, spiradenocylindroma ¹. Some associations of this syndrome were identified with parotid adenoma and carcinoma, sebaceous nevi, basal cell carcinoma, milium, xeroderma pigmentosum, hypo and hyperchromia, polycystic presentations in the lungs, kidneys, breasts and multiple fibromas ². There are reports of malignant transformation of dermal cylindromas, which may cause metastases in lymph nodes, thyroid, liver, lungs and bones ³.

The gene that predisposes to multiple trichoepitheliomas was mapped in chromosome 9p21.⁴ Susceptibility for family multiple cylindromas was identified in chromosome 16q 12-q 13. Immunohistochemical studies have shown that cylindroma is derived from the secretory spiral of apocrine gland, opposing to the old hypothesis that the tumor would have originated from the eccrine gland duct. However, there are still some uncertainties because cylindromas show positivity to IKH-4, considered an exclusive marker of eccrine gland ⁵.

In general, multiple cylindromas present as smooth erythematous papules or nodules with telangectasias on the surface, occurring mainly in the scalp in which the confluence of the tumors looks like a head turban. Under histology, the tumor is well delimited, non-encapsulated, forming polygonal or oval cell masses of varied sizes, separated by a thick hyaline membrane that is organized as a puzzle. Masses are comprised by a small basophil nucleus in palisade on the periphery and cells of large and clear nucleus on the central portion. There are also tubular structures that are recovered of eosinophilic cuticle. The hyaline sheath is PAS positive ⁶.

Multiple trichoepitheliomas are clinically manifested by many rounded papules and firm skin-colored nodules distributed on nasolabial sulci, nose and frontal region. Upon histology, trichoepithelioma is a well-delimited symmetrical tumor comprised by islets of uniform basaloid cells positioned in palisade, with small corneal cysts and epithelial structures that are similar to follicular papillae. The stroma is fibrotic and dense, and there are no artifact retractions between the tumor blocks and stroma, as is the case of basal cell carcinoma ⁷.

Tumors presented by patients with the syndrome may cause physical and emotional discomfort and many times they have to be removed by techniques such as excision and simple suture, electrosurgery, cryosurgery and laser therapy. Cases of neoplastic transformation were successfully treated by radiotherapy. It is important to have clinical follow-up of patients, taking into account the possibility of malignant transformation and the association with other neoplasms, which require genetic counseling ⁸.

REFERENCES

Conflict of interest: None

Financial funding: None

How to cite this article: Parente JNT, Schettini APM, Massone C, Parente RT, Schettini RA. Você conhece esta síndrome? Síndrome de Brooke-Spiegler. An Bras Dermatol. 2009;84(5):547-9.

• 1. Kazakov DV, Soukup R, Mukensnabl P, Boudova L, Michal M. Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous and sebaceous differentiation. Am J Dermatopathol. 2005;27:27-33
• 2. Retamar RA, Stengel F, Saadi ME, Kien MC, Giovana P, Cabrera H, et al Brooke Spiegler syndrome report of four families: treatment with CO2 laser. Int J Dermatol. 2007; 46:583-6
• 3. Durani BK, Kurzen H, Jaeckel A, Kuner N, Naeher H, Hartschuh W. Malignant transformation of multiple dermal cylindromas. Br J Dermatol. 2001;145:653-5
• 4. Saunders H, Tucker P, Saurine T, Watkins F. Pedigree of multiple benign adnexal tumours of BrookeSpiegler type. Australas J Dermatol. 2003;44:144-8
• 5. McNiff J, McCalmont TH, Requena L, Sangüeza OP, Vassallo C, Rosso R, et al Benign tumours with apocrine and eccrine differentiation. In: LeBoit PE, Burg G, Weendon D, Sarasin A. Pathology and genetics of skin tumours. Geneva: WHO/OMS; 2006. p.139-40
• 6. Cuzzi-Maya T, Piñeiro-Maceira J. Dermatopatologia: bases para o diagnóstico morfológico. São Paulo: ROCA, 2005. p.157-8
• 7. Ahmed TSS, Del Priore J, Seykora JT. Tumor of the epidermal appendages. In: Elder D, Elenitsas R, Jaworsky C, Johnson Jr. B, editors. Levers histopathology of the skin: hardcover. 10th.ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2009. p.851-910
• 8. Silva MR, Castro MCR. Fundamentos de dermatologia. Rio de Janeiro: Atheneu; 2008. p.1575

Publication Dates

• Publication in this collection
  07 Jan 2010
• Date of issue
  Oct 2009

History

• Accepted
  31 July 2009
• Received
  11 May 2009