-
Biomedicines Nov 2021Abnormal mosaicism is the coexistence of cells with at least two genotypes, by the time of birth, in an individual derived from a single zygote, which leads to a disease... (Review)
Review
Abnormal mosaicism is the coexistence of cells with at least two genotypes, by the time of birth, in an individual derived from a single zygote, which leads to a disease phenotype. Somatic mosaicism can be further categorized into segmental mosaicism and nonsegmental somatic mosaicism. Acne is a chronic illness characterized by inflammatory changes around and in the pilosebaceous units, commonly due to hormone- and inflammatory signaling-mediated factors. Several systemic disorders, such as congenital adrenal hyperplasia, polycystic ovarian syndrome, and seborrhoea-acne-hirsutism-androgenetic alopecia syndrome have classically been associated with acne. Autoinflammatory syndromes, including PAPA, PASH, PAPASH, PsAPASH, PsaPSASH, PASS, and SAPHO syndromes include acneiform lesions as a key manifestation. Mosaic germline mutations in the gene have been associated with Apert syndrome and nevus comedonicus, two illnesses that are accompanied by acneiform lesions. In this review, we summarize the concept of cutaneous mosaicism and elaborate on acne syndromes, as well as acneiform mosaicism.
PubMed: 34829964
DOI: 10.3390/biomedicines9111735 -
Indian Journal of Dermatology 2015A case of nevus comedonicus syndrome with atypical cutaneous presentation (widespread involvement without any particular pattern, midline lesions involving lower abdomen...
A case of nevus comedonicus syndrome with atypical cutaneous presentation (widespread involvement without any particular pattern, midline lesions involving lower abdomen and involvement of bilateral pinna), and some unusual skeletal (adduction deformity involving bilateral metatarsal along with medial deviation at the level of tarsometatarsal joint), central nervous system (agenesis of corpus callosum with a interhemispheric cyst), visceral (pancreatic cyst) and neurological manifestations have been illustrated.
PubMed: 26288437
DOI: 10.4103/0019-5154.160523 -
American Journal of Ophthalmology Case... Dec 2020
PubMed: 32984649
DOI: 10.1016/j.ajoc.2020.100907 -
JAAD Case Reports Apr 2024
PubMed: 38510838
DOI: 10.1016/j.jdcr.2024.02.002 -
Indian Dermatology Online Journal Oct 2014
PubMed: 25396147
DOI: 10.4103/2229-5178.142535 -
Northern Clinics of Istanbul 2019
PubMed: 31909387
DOI: 10.14744/nci.2018.06926 -
Indian Journal of Dermatology Nov 2011
PubMed: 22345795
DOI: 10.4103/0019-5154.91853 -
Yonago Acta Medica Jun 2013Nevus comedonicus is an uncommon skin abnormality characterized by an aggregation of dilated follicular orifices filled with keratinous material. Nevus comedonicus is...
Nevus comedonicus is an uncommon skin abnormality characterized by an aggregation of dilated follicular orifices filled with keratinous material. Nevus comedonicus is occasionally complicated with other conditions including cataracts, skeletal defects, central nervous system abnormalities or other extra-cutaneous diseases (nevus comedonicus syndrome). Although most cases of nevus comedonicus occur unilaterally on the face, neck and chest, the lesions occasionally show a bilateral distribution (bilateral nevus comedonicus). We report here an unusual case of bilaterally disseminated nevus comedonicus with various systemic complications. A 62-year-old Japanese man presented with a 50-year history of numerous keratotic papules and comedo-like lesions, which gradually worsened with time. Physical examination revealed that the papules were skin-colored and 1-4 mm in diameter. Some papules had dark-black keratinous materials on their surface, giving them a comedo-like appearance. The lesions were located predominantly on the face, head, neck and trunk with symmetric distribution, following Blaschko's lines. The patient's past medical history was noteworthy; he had undergone surgical treatments for thyroid cancer, pneumothorax and schwannoma in the cauda equina. He also suffered from scoliosis, cervical spondylosis and atrial fibrillation. Histopathologic examination revealed dilated and invaginated follicular structures filled with lamellar keratin, compatible with nevus comedonicus. Our patient's case did not fit with any previously reported diseases, and we thought a diagnosis of "bilateral nevus comedonicus syndrome" was the most appropriate for our patient's condition. He was treated with topical retinoic acid and activated vitamin D3 ointment for 3 months each, but the lesions remained unchanged.
PubMed: 24031154
DOI: No ID Found