Malignant proliferating pilar tumors arising in KID syndrome: A report of two patients

Abstract

We report on two young adults with KID syndrome and follicular hyperkeratosis, hidradenitis suppurativa of the groin, progressive development of proliferative pilar cysts and dissecting cellulitis of the scalp, who developed metastatic malignant pilar tumors. Based on our findings, we believe that cancer surveillance in patients with KID syndrome should include screening for pilar tumors and their early removal to avoid development of malignant proliferating pilar tumors with poor prognosis.

The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome

“…KIDS patients also have recurrent cutaneous infections that can lead to lethal septicemia in pediatric patients, particularly those carrying the Cx26-G45E mutation (Janecke et al , 2005; Griffith et al , 2006; Jonard et al , 2008; Sbidian et al , 2010; Koppelhus et al , 2011). The phenotypic spectrum of KIDS is broad and may also include features of a follicular occlusion triad encompassing dissecting folliculitis, hidradenitis suppurativa, and cystic acne (Montgomery et al , 2004; Maintz et al , 2005), mucositis (Brown et al , 2003; Lazic et al , 2008), or KIDS with proliferative pilar cysts (Nyquist et al , 2007). Current treatment of KIDS is symptomatic and aims to alleviate symptoms, and includes topical or systemic antibiotics/antifungals, keratolytics, and moisturizers (Richard, 2005; Abdollahi et al , 2007; Braun-Falco, 2009).…”

Proliferating trichilemmal tumour

“…Interestingly, malignant PTT has been reported in two patients with keratitis-ichthyosis-deafness (KID) syndrome and this group might warrant screening for PPT. 34 …”

Connexin hemichannels influence genetically determined inflammatory and hyperproliferative skin diseases

“…Trichilemmal neoplasms arise as well-circumscribed admixed solid and cystic structures formed as a consequence of derailed follicular keratinization, follicular plugging, cyst formation and chronic inflammation [52,69]. A high index of suspicion for malignant transformation is imperative in KID syndrome as there have been reports of metastatic disease appearing as early as the third decade of life [79]. Characteristics of concerns include rapid exophytic growth, ulceration and necrosis, and anchoring to deep subcutaneous tissues that may signal invasion.…”