Multiple Hereditary Cylindromas

 

Article by :

S. Shetye

M.V. Mallya

R.G.W. Pinto

 

Abstract

A 60-year-old male patient presented to the outpatient department of Dermatology with multiple swellings on the scalp and face. Excisional biopsy of the swelling was done. Histopathology revealed cylindromas, which was hereditary in nature (as evidenced on history taking). This case report is published for rarity of occurrence.

 

Introduction:

Cylindroma was first described by Ancell in 1842.[1] However, the term cylindroma was coined by Billroth in 1859. Cylindroma commonly presents as either as a solitary lesion on the scalp or face, or as multiple lesions as in the case of multiple hereditary cylindromas. Multiple lesions when present suggest that the lesions are usually an inherited form of the disease.

 

CLINICAL PRESENTATION:

A 60-year-old male patient presented with complaint of multiple swellings over the scalp and face for a duration of 5 to 7 years. The swellings  measured  between the range of 2 to 4 centimetres. These swellings gradually increased   in  size  over  a  period  of  years.  On history, it was also noted that similar types of swellings were present in the patient’s father and sister. Thus, proving the hereditary nature of the lesion. An excision biopsy of one of the swellings over the scalp was done to determine the exact nature of the swelling.

 

HISTOPATHOLOGY:

GROSS:

A skin covered specimen measuring 1 x 2 cm was received in formalin fixative solution.

 

MICROSCOPY:

Microscopy revealed islands of basaloid cells surrounded by hyalinised material (Figures 1 & 2). These basaloid cells were arranged in a jigsaw puzzle-like architecture. Some islands were solid while some showed presence of lumina lined by two types of cells.

TC-July2017-034 - Islands of tumor cells

The two cell types seen were, the smaller and darker cells in the periphery of the islands, and those in the centre which were larger and lighter.[2] The characteristic feature was the thick, eosinophilic, hyaline basement membrane material that was seen surrounding these islands. It was strongly periodic acid Schiff (PAS) positive in nature.[2]

TC-July2017-035 - tumor cells within an island with peripheral palisade of cells

DIAGNOSIS:

Benign multiple hereditary cylindromas.

 

Discussion:

In case of cylindroma, the patient presents with numerous, dome shaped, smooth nodules on face, rarely on the extremities and trunk. The lesions appear in early adulthood and increase in size and number over the years. The size varies from few millimetres to several centimetres.

Nodules may sometimes cover the entire scalp like a turban and hence they are also known as turban tumors. Multiple cylindromas are usually associated with Brooke-Spiegler syndrome.

Brooke-Spiegler syndrome is an autosomal dominant inherited disorder characterised by multiple cylindromas, spiradenoma and trichoepitheliomas.[3,4] Genetic studies have identified a single gene CYLD 1 on chromosome 16q12-q13 which is altered in multiple cylindromatosis syndrome (Brooke-Spiegler). Inactivation mutation of tumor suppressor gene CYLD or frameshift mutation in CYLD gene is implicated in familial cylindromatosis.[3,4]

The modalities of treatment available for adnexal tumors include excision of the tumor, dermabrasion, electrodessication, cryotherapy and radiotherapy using Argon and CO2 lasers.[5] In this case, the lump was excised and the patient was asked to follow up.

 

Conclusion:

Multiple hereditary cylindroma is a benign skin adnexal tumor. Malignant transformation is very rare.

TC-July2017-036 - Authors Pg36

 

References:

  1. Ancell H. History of a remarkable case of tumors developed on the head and face, accompanied with a similar disease in the abdomen. Medica-Chirugical Transactions. 1842; 25: 227-246.
  2. Ahmed TSS, Priore JD, Seykora JT. Tumors of epidermal appendages In: Levers Histopathology of Skin. Elder DE (Editor), 10th edition. Lippincott Williams and Wilkins , 2009; 852-883.
  3. Sima R, Vanecek T, Kacerovska D, et al. Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patient regardless of tumor type. Diagnostic Molecular Pathology. 2010; 19(2): 83-91.
  4. Rallan D, Harland CC. Brooke-Spiegler syndrome: treatment with laser ablation. Clinical and Experimental Dermatology. 2005; 30(4): 355-357.
  5. Bignell GR, et al. Identification of familial cylindromatosis tumor suppressor gene. Nat genet. 2000; 25: 160.