Knowledge explosion for monogenic skin diseases

Table 1 Classification of the clinical variants within the disease spectrum caused by CYLD mutation

Name of clinical variant	Familial cylindromatosis	Brooke-Spiegler syndrome	Multiple familial trichoepithelioma type 1
Clinical symptoms	Cylindromas	Cylindromas Trichoepitheliomas Spiradenomas	Trichoepitheliomas
Genetic background	Any type of mutation	Any type of mutation	Any type, but mainly missense mutations

Table 2 Reported clinical variants and geographic distributions of the most common recurrent mutations of the CYLD gene

CYLD cDNA	CYLDprotein	Detected in patients with	Nationality	Ref.
c.1112C > A	p.S371X	BSS, FC, MFT1	American, African American, Irish, Dutch, Austrian, Czech, Slovak, Chinese	Bignell et al[27], 2000; Bowen et al[30], 2005; Saggar et al[32], 2008; Linos et al[40], 2011; Kazakov et al[39], 2011; Grossmann et al[33], 2013; Kacerovska et al[51], 2013; Lv et al[41], 2013; Van den Ouweland et al[36], 2011
c.2272C > T	p.R758X	BSS, FC, MFT1	American, South African, Austrian, Czech, Dutch, Chinese, Japanese	Bignell et al[27], 2000; Kazakov et al[38], 2009; Kazakov et al[39], 2011; Grossmann et al[33], 2013; Oiso et al[42], 2004; Zhang et al[37], 2006; van den Ouweland et al[36], 2011
c.2806C > T	p.R936X	BSS, FC, MFT1	American, Canadian, Anglo-Saxon, Czech, Hungarian, Chinese	Bignell et al[27], 2000; Bowen et al[30], 2005; Saggar et al[32], 2008; Kazakov et al[38], 2009; Grossmann et al[33], 2013; Young et al[31], 2006; Nagy et al[35], 2013

BSS: Brooke-Spiegler syndrome; FC: Familial cylindromatosis; MFT1: Multiple familial trichoepithelioma type 1.