10 citations
,
February 2022 in “JMIR Dermatology” People with Down syndrome often have skin issues and need regular check-ups for early treatment.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
June 2024 in “British Journal of Dermatology” A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
January 2022 in “Indian dermatology online journal” A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
April 1955 in “Archives of pediatrics & adolescent medicine” Children's skin diseases need special care and treatment.
1 citations
,
July 2023 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
49 citations
,
January 2013 in “Dermatologic Therapy” Newborns with ichthyosis need specific care based on their skin type.
19 citations
,
July 2004 in “Clinical and experimental dermatology” Acneiform follicular mucinosis can be controlled with systemic corticosteroids.
11 citations
,
December 2015 in “Indian journal of dermatology, venereology, and leprology” Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
7 citations
,
January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.
1 citations
,
February 2017 in “The American journal of dermatopathology/American journal of dermatopathology” A man with a skin nodule was diagnosed with a rare skin condition called cutaneous focal mucinosis, which can be confused with other skin cancers.
January 2023 in “Journal of Veterinary and Animal Sciences” Dogs with skin lesions often have blood abnormalities and damaged hair.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
November 2017 in “International journal of research in dermatology” A rare skin disorder, nevus comedonicus, can appear on one side of the body following Blaschko's lines.
2 citations
,
January 2007 in “Actas Dermo-Sifiliográficas” Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
36 citations
,
November 2000 in “Journal of the American Academy of Dermatology” A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
21 citations
,
April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
49 citations
,
July 1994 in “British journal of dermatology/British journal of dermatology, Supplement” Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
4 citations
,
December 2014 in “Indian Journal of Dermatology” A rare skin condition with cysts was found on a 5-year-old boy's scalp.
17 citations
,
October 2001 in “Veterinary dermatology” The skin issues in the two dogs might be caused by infection or self-injury, not genetics.
1 citations
,
January 2014 in “Indian journal of dermatology, venereology, and leprology” Papular mucinosis can cause eyebrow hair loss, but treatment can lead to regrowth.
5 citations
,
December 1978 in “PubMed” Malabsorption can cause skin issues like pigmentation changes and hair loss, which improve with treatment.
February 2018 in “BMJ case reports” An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
July 1979 in “Archives of Dermatology” A 68-year-old woman with benign mucous membrane pemphigoid has eye, mouth, and skin issues, including thick plaques and nail changes.