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Malignant Proliferating Pilar Tumors Arising in KID Syndrome: a Report of Two Patients

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Malignant Proliferating Pilar Tumors Arising in KID Syndrome: a Report of Two Patients ß 2007 Wiley-Liss, Inc. American Journal of Medical Genetics Part A 143A:734–741 (2007) Clinical Report Malignant Proliferating Pilar Tumors Arising in KID Syndrome: A Report of Two Patients Gurston G. Nyquist,1 Christina Mumm,2 Renee Grau,2 A. Neil Crowson,2 Daniel L. Shurman,3 Paul Benedetto,3 Pamela Allen,2 Kelli Lovelace,2 David W. Smith,4 Ilona Frieden,5 C. Patrick Hybarger,6 and Gabriele Richard3,7* 1Department of Otolaryngology, Head and Neck Surgery, Kaiser Permanente, Oakland, California 2Department of Dermatology, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 3Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 4Department of Pathology, Head and Neck Surgery, Kaiser Permanente, San Rafael, California 5Department of Dermatology, University of California San Francisco, California 6Department of Otolaryngology, Head and Neck Surgery, Kaiser Permanente, San Rafael, California 7GeneDx Inc., Gaithersburg, Maryland Received 1 May 2006; Accepted 17 November 2006 We report on two young adults with KID syndrome proliferating pilar tumors with poor prognosis. and follicular hyperkeratosis, hidradenitis suppurativa of ß 2007 Wiley-Liss, Inc. the groin, progressive development of proliferative pilar cysts and dissecting cellulitis of the scalp, who developed meta- static malignant pilar tumors. Based on our findings, we Key words: KID syndrome; skin cancer; squamous cell believe that cancer surveillance in patients with KID carcinoma; malignant pilar tumor; proliferating trichilemmal syndrome should include screening for pilar tumors and tumor; hidradenitis suppurativa; cystic acne; connexin; their early removal to avoid development of malignant Cx26 How to cite this article: Nyquist GG, Mumm C, Grau R, Crowson AN, Shurman DL, Benedetto P, Allen P, Lovelace K, Smith DW, Frieden I, Hybarger CP, Richard G. 2007. Malignant proliferating pilar tumors arising in KID syndrome: A report of two patients. Am J Med Genet Part A 143A:734–741. INTRODUCTION with asparagine (D50N). Cx26 is a gap junction protein involved in intercellular communication Keratitis–Ichthyosis–Deafness (KID) syndrome and control of cellular differentiation in ectoderm- is a rare ectodermal dysplasia (OMIM 148210) derived stratifying epithelia of cochlea, cornea, characterized by sensorineural hearing loss palmoplantar epidermis and sweat glands and ducts. (SNHL), photophobia and corneal vascularization, In addition, Cx26 is highly expressed in the hair hyperkeratosis of the palms and soles (palmoplantar follicle inner and outer root sheath (ORS) in human keratoderma, PPK), erythrokeratoderma, follicular hair follicles [Arita et al., 2004]. Cx26 expression hyperkeratosis (keratosis pilaris) and recurrent bacterial and fungal infections. Since the first description by Burns [1915], more then 90 KID syndrome cases have been reported worldwide. The disorder can be transmitted as autosomal Abbreviations Used: KID, syndromeKeratitis–Ichthyosis–Deafness syndrome;SNHL, sensorineural hearing loss;PPK, palmoplantar kerato- dominant, albeit nine out of ten cases are sporadic derma;SCC, squamous cell carcinoma;Cx, connexin;CT, computerized due to a very high rate of new mutations. KID tomography;MRI, magnetic resonance imaging;STSG, split-thickness skin syndrome is caused by missense mutations in the graft;PTT, proliferating trichilemmal tumor. connexin (Cx) 26 gene, GJB2. Almost 80% of patients Grant sponsor: National Foundation for Ectodermal Dysplasias; Grant sponsor: NIH/NIAMS; Grant numbers: K08-AR02141, P01-AR38923. with KID syndrome harbor a common, recurrent *Correspondence to: Gabriele Richard, MD, GeneDx Inc., 207 Perry mutation, which replaces the highly conserved Parkway, Gaithersburg, MD 20877. E-mail: [email protected] aspartic acid residue at position 50 of the polypeptide DOI 10.1002/ajmg.a.31635 American Journal of Medical Genetics Part A: DOI 10.1002/ajmg.a MALIGNANT PROLIFERATING PILAR TUMORS IN KID SYNDROME 735 pattern and function overlaps with that of Cx30 SCC extending into the subcutis with clear in ectodermal epithelia and in one patient with surgical margins. Uninvolved skin at the borders of KID syndrome and congenital atrichia, a missense the tumor showed multiple epidermal cysts, chronic mutation of the Cx30 gene, GJB6, was reported [Jan inflammation and marked dermal scarring. Two et al., 2004]. superficial inguinal lymph nodes contained meta- Remarkably, KID syndrome is also associated with static tumor nests. The patient was treated with an increased susceptibility for squamous cell carci- adjuvant radiation and chemotherapy and was free noma (SCC) of the skin and tongue, which have been of local recurrence 3 years later. observed in at least 10% of patients [Lancaster and At age 32, the patient presented with another Fournet, 1969; Baden and Alper, 1977; Madariaga significant, ulcerating skin tumor on the left occipital et al., 1986; Morris et al., 1991; Hazen et al., 1992; scalp draining serous fluid (Fig. 1). The fungating van Steensel et al., 2002]. We report here on two tumor was 12 cm  10 cm in size and the suboccipital young patients with KID syndrome who developed lymph nodes were enlarged. A superficial shave hundreds of proliferating pilar (trichilemmal) scalp biopsy of the skin, which did not include the deeper cysts transforming into metastatic malignant pilar pilo-sebaceous structures, showed full-thickness tumors and make recommendations for cancer epidermal keratinocytic dysplasia and hence was surveillance and treatment of these tumors in KID interpreted as a primary, well-differentiated SCC. syndrome. Computerized tomography (CT) scans showed a large skin and subcutaneous lesion extending into the skull bone with erosion of the posterior aspect of CLINICAL REPORTS the mastoid air cells. There were several enhancing Patient 1 lymph nodes inferior to the left parotid gland suspicious for metastases. Staging CT of the chest, A 31-year-old African American woman presented abdomen and pelvis were negative for disease with a history of KID syndrome and recalcitrant involvement. The magnetic resonance imaging hidradenitis suppurativa. Family history revealed (MRI) of the brain was negative. The patient under- that the patient’s paternal aunt had been also went a complete surgical excision of the skin tentatively diagnosed with KID syndrome and tumor and draining lymph nodes. Final histological passed away in her young adulthood. The patient examination of the entire resected tumor demon- did not have a relationship with this aunt and, strated morphological hallmarks of a primary therefore, did not know her clinical course or her malignant proliferating pilar tumor (PPT), clearly cause of death. There were no vision, hearing, or skin originating from the pilosebaceus unit but reaching disorders, including follicular tumors or skin cancers the epidermis. There were sheets of fully trans- in other family members. The patient’s father is formed malignant squamous cells with extensive estranged and was unavailable for physical exam, areas of abrupt tricholemmal keratinization lacking thus the segregation of KID syndrome in this family a granular cell layer (Fig. 1). In several foci, the could not be confirmed. malignant epithelial sheets arose in continuity with The patient had bilateral SNHL first diagnosed in cystic structures lined by banal squamous epithelium infancy, photophobia and corneal vascularization, showing pilar differentiation, in continuity with areas which were slowly progressing since adolescence. of progressive dysplasia of the ORS epithelium, held Her skin was dry. She had PPK with a ‘stippled’ to be further morphologic evidence of derivation appearance typical for KID syndrome (Fig. 1) and from cysts arising from the deep components of deep atrophic scars on both cheeks from previous the hair follicle apparatus. There was perineural cystic acne. Seven years earlier she was diagnosed invasion. Metastatic deposits were identified in 3 of with hidradenitis suppurativa of her groins as well as 25 sampled lymph nodes. Within the excised scalp dissecting cellulitis of the scalp. Both were recalci- skin, the hair follicle density was greatly reduced; trant and progressive and were aggressively yet residual hair follicles were dilated and plugged with unsuccessfully treated with multiple courses of keratin material and the dermis was sclerotic, antibiotics and a 5-month course of isotretinoin consistent with her history of scarring alopecia (80 mg/day). By age 28, the dissecting cellulitis had secondary to dissecting cellulitis. After a hiatus of finally resolved with diffuse scarring alopecia invol- 4 months, during which the patient did not receive ving the occipital, parietal, and frontal scalp (Fig. 1). radiation or chemotherapy, she returned for a The hidradenitis remained a therapeutic challenge dermatological follow up visit with a 4 cm  4cm and eventually a surgical en bloc resection as tumor mass along the left anterior cervical chain. She performed, which lead to the discovery of a was immediately referred back to otorhinolaryn- moderately differentiated SCC upon histological gology and oncology and is currently undergoing examination. The tumor mass was surgically excised chemotherapy. and a lymph node dissection was performed. Mutation analysis of the Cx26 gene was performed to The resection showed a moderately differentiated confirm the clinical diagnosis of KID syndrome. The American Journal of Medical Genetics Part A: DOI 10.1002/ajmg.a
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