2 citations
,
January 2017 in “Indian Dermatology Online Journal” A rare skin reaction from laser hair removal can be prevented with medication.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
32 citations
,
February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
April 2025 in “Dermatology Practical & Conceptual” Biopsy is crucial for accurately diagnosing EPDS to avoid mistaking it for SCC.
17 citations
,
January 2011 in “Indian journal of dermatology, venereology, and leprology” A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
July 2022 in “Dermatology Reports” A rare scalp condition called Erosive pustular dermatosis is hard to diagnose and treat.
8 citations
,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
September 2023 in “Clinical, cosmetic and investigational dermatology” A patient with a rare form of lupus improved after treatment for skin ulcers and hair loss on the face and scalp.
26 citations
,
October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
January 2010 in “The Year book of perinatal/neonatal medicine” Early skin biopsy helps diagnose and manage severe skin conditions in babies.
19 citations
,
March 2011 in “The Journal of Dermatology” A child's rare skin disease was triggered by chickenpox.
30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
4 citations
,
June 2021 in “Wounds-a Compendium of Clinical Research and Practice” Chronic scalp lesions with crusts and pus that heal with strong topical steroids suggest Erosive Pustular Dermatosis, confirmed by biopsy showing specific immune cells.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
3 citations
,
July 2018 in “Elsevier eBooks” Erosive pustular dermatosis of the scalp is a rare condition that causes scarring hair loss, mainly in older women, and requires ongoing treatment.
20 citations
,
October 2005 in “Archives of Dermatological Research”
October 2025 in “EMJ Dermatology” Histopathology is crucial for accurately diagnosing eruptive vellus hair cysts.
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
27 citations
,
February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
175 citations
,
August 1997 in “Nature Genetics”
Melanocytes can regenerate around hair follicles in bullous pemphigoid, especially in patients with darker skin.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
4 citations
,
January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.