Netherton syndrome: A rare genodermatosis
Indian Dermatology Online Journal, 2011 Vivek Kumar Dey
doaj +3 more sources
Incontinentia pigmenti: A rare genodermatosis [PDF]
Our Dermatology Online, 2021 Hind Palamino +5 more
openaire +2 more sources
Michelin tyre baby: A rare genodermatosis [PDF]
Indian Pediatrics, 2013 Dhulika, Dhingra +2 more
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Molecular Changes Induced by Carbon Dioxide Laser in Hailey-Hailey Disease: A Potential Mechanism Underlying Treatment Efficacy. [PDF]
Int J DermatolABSTRACT Introduction Hailey‐Hailey disease (HHD) is a rare genodermatosis caused by mutations in the ATP2C1 gene that codes for SPCA1, a calcium transporter in the epidermis. HHD impairs quality of life, and no curative treatment exists. Methods To confirm the efficacy and safety of CO2 laser in HHD, we conducted a randomized, prospective, controlled ...
Antoñanzas J +7 more
europepmc +2 more sources
Netherton Syndrome With Trichorrhexis Invaginata "Bamboo Hair" Under Dermoscopy: Case Images. [PDF]
Clin Case RepABSTRACT Early recognition of Netherton syndrome in children can be prompted by dermoscopic detection of trichorrhexis invaginata (“bamboo hair”) together with ichthyosis linearis circumflexa. Dermoscopy of eyebrow hairs is a simple, noninvasive clue that expedites diagnosis, counseling, and supportive care while genetic testing is pursued.
Nagshabandi KN, Alsalhi A.
europepmc +2 more sources
Case of a genodermatosis presenting with verrucous lesions mimicking treatment-refractory warts. [PDF]
JAAD Case RepFadadu RP, Orme C.
europepmc +2 more sources
Management of Upper Airway Infantile Hemangiomas: Experience of One Italian Multidisciplinary Center
Frontiers in Pediatrics, 2021 Airway infantile hemangiomas (IHs) can represent a life-threatening condition since the first months of life. They may be isolated or associated to cutaneous IHs, and/or part of PHACES syndrome.
Marialuisa Corbeddu +8 more
doaj +1 more source
A multicenter study on quality of life of the “greater patient” in congenital ichthyoses
Orphanet Journal of Rare Diseases, 2021 Background Autosomal recessive congenital ichthyoses (ARCI) are a genetically heterogeneous group of rare and chronic disorders characterized by generalized skin scaling and hyperkeratosis, erythroderma, and palmoplantar keratoderma.
Damiano Abeni +9 more
doaj +1 more source
A clinical case of familial enteropathic acrodermatitis caused by a new genetic mutation in exon 10 of the SLC39A4 gene [PDF]
Alʹmanah Kliničeskoj Mediciny, 2021 Enteropathic acrodermatitis is a rare form of genodermatoses, a group of hereditary disorders with prevailing skin lesions. The disease manifestation in children is associated with withdrawal of breastfeeding and switch to the cow milk-based products ...
Antonina S. Stadnikova +6 more
doaj +1 more source