January 2022 in “Clinical dermatology review” A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
3 citations
,
May 2019 in “BMJ case reports” A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
4 citations
,
May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
September 2012 in “Turkish Journal of Dermatology” Erythema multiforme-like lesions can occur in lupus without drug use or herpes infection.
June 2021 in “Dermatology Online Journal” A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
December 2025 in “Indian Journal of Dermatology” Extraction videodermoscopy is an effective, non-invasive diagnostic tool for eruptive vellus hair cysts.
46 citations
,
May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
33 citations
,
April 2003 in “Oncogene” August 2025 in “Indian Dermatology Online Journal” Early recognition and treatment of EPDS are crucial to prevent permanent hair loss.
1 citations
,
January 2008 in “SKINmed Dermatology for the Clinician” Treatment with prednisolone and dapsone stopped new blisters and partially healed previous ones.
March 2024 in “EMBO molecular medicine” Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Dermal EZH2 controls skin cell growth and differentiation in mice.
7 citations
,
February 2010 in “British Journal of Dermatology” A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
Ribonucleotide excision repair is crucial to prevent skin cancer.
238 citations
,
October 1994 in “Current opinion in genetics & development” The document concludes that recent research has improved understanding of skin diseases and the balance between cell growth and differentiation in the epidermis.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
9 citations
,
December 1987 in “Archives of Dermatology” Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
12 citations
,
January 1991 in “Acta Dermato Venereologica” Basal cell epithelioma-like changes are most similar to normal basal cells.
85 citations
,
March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
2 citations
,
June 2021 in “PubMed” Chronic scalp lesions with crusts and pus indicate Erosive Pustular Dermatosis, which is confirmed by biopsy and effectively treated with strong topical steroids.
7 citations
,
April 2021 in “Journal of Lower Genital Tract Disease” Erosive lichen sclerosus is a distinct subtype with specific skin features, and treatment led to complete resolution in half of the cases.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
35 citations
,
April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
January 2016 in “Indian Dermatology Online Journal” A rare skin condition called Eruptive Vellus Hair Cyst can cause itchy papules on the face.
August 2025 in “International Journal of Research in Dermatology” Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
1 citations
,
July 2023 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
August 2018 in “Journal of The American Academy of Dermatology” A 16-year-old girl's skin rash was likely caused by an infection and improved with topical steroids.
8 citations
,
April 2014 in “Clinical and Experimental Dermatology” Eruptive vellus hair cysts likely originate from the infrainfundibulum and sebaceous duct.