PubMed · 9640547
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J C English, M L McCollough. 1998. Hereditary papulotranslucent acrokeratoderma.. https://pubmed.ncbi.nlm.nih.gov/9640547/
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Pachyonychia congenita (PC) comprises a heterogeneous group of autosomal dominantly inherited conditions showing characteristic nail thickening and associated signs such as palmoplantar keratoderma, follicular keratoses, and mucosal leukokeratoses. Less frequently epidermal cysts, hairshaft abnormalities, natal teeth and laryngeal involvement may be seen. Phenotypically and genetically two major forms of PC are recognized, pachyonychia congenita Jadassohn-Lewandowsky/PC type I (Medelian inheritance in man-MIM-167200) and pachyonychia congenita Jackson-Lawler/PC type II (MIM 167210). Both conditions show nail deformities, focal palmoplantar keratoderma, and follicular hyperkeratoses. Diagnostically relevant are leukokeratoses of the oral mucosa in patients with PC type I. In contrast individuals affected with PC type II show premature dentition and multiple pilosebaceous cysts predominantly affecting the upper trunk. The latter closely resemble eruptive vellus hair cysts and steatocystoma multiplex. By mutational analysis keratin K6a and K16 gene mutations have been detected in patients with PC type I, and keratin K6b and K17 gene mutations have been shown to be the underlying genetic defect in patients with PC type II.
Darier-White's disease is a rare autosomal-dominant disorder of keratinization. The underlying pathology for the clinical presentation is acantholysis, and various types of dyskeratosis and acanthosis. In this study, we utilized a non-invasive optical imaging modality, confocal reflectance microscopy, to identify specific histologic features of Darier-White's disease in vivo. Micrographic findings in the confocal images were corps ronds, suprabasal clefts, acantholytic suprabasal keratinocytes, and villi. Real-time confocal images are illustrative and can be well correlated with known light microscopic phenomena, particularly in the case of keratinization abnormalities in Darier-White's disease.
Keratosis follicularis spinulosa decalvans (KFSD) is a rare, X linked disorder with skin and eye involvement (MIM 308800). We have studied a large British family with KFSD using polymorphic markers from Xp21-p23 and obtained a lod score of 2.056 at theta=0 with markers proximal and distal to the KFSD candidate region Xp22.13-p22.2 identified by Oosterwijk et al. Our data confirm the linkage to Xp22.13-p22.2 observed in the previously reported Dutch family, but fail to narrow the candidate interval for the KFSD locus.