-
Indian Journal of Dermatology,... 2022Porokeratosis is a keratinization disorder with unclear etiopathogenesis, varied clinical presentation and characteristic histopathology, and is usually unresponsive to... (Review)
Review
Porokeratosis is a keratinization disorder with unclear etiopathogenesis, varied clinical presentation and characteristic histopathology, and is usually unresponsive to current therapeutic options. Until now, it was considered to be a clonal disorder with immunity, ultra violet radiation and other factors playing important roles in etiopathogenesis. It is now known that abnormalities in the mevalonate pathway are responsible for this clonal keratinization abnormality. New variants of porokeratosis like eruptive bullous, pruriginous, lichen planus like, follicular variants and porokeratoma have been described. While the cornoid lamella is the classical histopathologic feature, dermoscopy and reflectance confocal microscopy make the diagnosis clearer. Development of malignancy in a few variants is a concern. Linear, disseminated superficial actinic and giant lesions are most prone to developing malignancies. Bowen's disease, squamous cell carcinoma, basal cell carcinoma and even melanoma have been reported in cases of long-standing porokeratosis. Newer modalities of therapy such as photodynamic therapy, ingenol mebutate and HMGCoA inhibitors may play a role in the future.
Topics: Bowen's Disease; Carcinoma, Squamous Cell; Humans; Porokeratosis; Skin Neoplasms; Ultraviolet Rays
PubMed: 34877845
DOI: 10.25259/IJDVL_806_20 -
Clinical, Cosmetic and Investigational... 2021Porokeratosis ptychotropica is a rare form of porokeratosis characterized by dyskeratotic skin lesions around genital area or gluteal cleft. Herein, a case of...
Porokeratosis ptychotropica is a rare form of porokeratosis characterized by dyskeratotic skin lesions around genital area or gluteal cleft. Herein, a case of porokeratosis ptychotropica was reported. The patient was a 35-year-old man, who complained of pruritic papules and plaques in the perianal and buttock region for thirteen years. On examination, well-demarcated brown plaques with a verrucous white surface and multiple satellite papules were located along the gluteal folds and buttocks sparing the anus. Histopathological examination was consistent with porokeratosis. Combined with clinical manifestations and histopathologic changes, the patient was diagnosed as porokeratosis ptychotropica. He was treated with oral acitretin 30mg/d and CO laser treatment, but the lesions showed no evident improvement after three months. Although it is not a new case, this condition is an extremely rare one that must be reviewed and emphasized. The dermatologist should keep porokeratosis ptychotropica in mind as one differential diagnosis for pruritic papules in the anogenital region.
PubMed: 34675580
DOI: 10.2147/CCID.S334682 -
European Journal of Dermatology : EJD Aug 2021
PubMed: 34463291
DOI: 10.1684/ejd.2021.4083 -
Indian Dermatology Online Journal 2021
PubMed: 34430474
DOI: 10.4103/idoj.IDOJ_484_20 -
Postepy Dermatologii I Alergologii Feb 2021
PubMed: 34408586
DOI: 10.5114/ada.2021.104293 -
Indian Journal of Dermatology,... 2023
Topics: Humans; Porokeratosis; Skin Abnormalities
PubMed: 34245542
DOI: 10.25259/IJDVL_1359_20 -
Indian Journal of Dermatology,... 2023
Topics: Humans; Porokeratosis; Buttocks; Biopsy
PubMed: 34245530
DOI: 10.25259/IJDVL_122_2021 -
Indian Dermatology Online Journal 2021
PubMed: 34211921
DOI: 10.4103/idoj.IDOJ_419_20 -
Indian Journal of Dermatology 2021
PubMed: 34188287
DOI: 10.4103/ijd.IJD_81_20 -
Indian Journal of Dermatology 2021Porokeratosis (PK) is a rare, heterogeneous group of keratinization disorders with an autosomal dominant inheritance pattern and is characterized by the presence of...
BACKGROUND
Porokeratosis (PK) is a rare, heterogeneous group of keratinization disorders with an autosomal dominant inheritance pattern and is characterized by the presence of cornoid lamella. Disseminated superficial actinic PK is the most encountered subtype and typically manifests as multiple, small annular plaques with atrophic centers and slightly raised hyperkeratotic edges. Seven associated mutations (, and ) have been reported in disseminated superficial actinic PK patients.
AIM
We searched a Chinese disseminated superficial porokeratosis (DSAP) family to detect the causative genes. In the meantime, we reviewed the articles reported about DSAP in Chinese population, summarizing their clinical manifestations and discussing the incidence of DSAP in Chinese population.
MATERIALS AND METHODS
Sanger sequencing on the and genes was performed to identify the pathogenic mutation in a Chinese family with DSAP. Literature for DSAP cases reported in Chinese populations was searched by Sinomed and PubMed.
RESULTS
We identified the c. 875A > G (p. Asn292Ser) mutation in the gene in the family.
CONCLUSIONS
That mutation was a hotspot mutation. Literature review showed that the age of onset in DSAP family was earlier than that in sporadic patients; the lesion is common in the face in Chinese population which is distinct from studies in Caucasians; ultraviolet exposure is the main aggravating factor.
PubMed: 34188266
DOI: 10.4103/ijd.IJD_226_18