33 citations
,
March 2018 in “Italian Journal of Dermatology and Venereology” Cutaneous lupus erythematosus is a chronic skin disease that can progress to systemic lupus in some cases and requires treatment to prevent recurrences and scarring.
1 citations
,
April 2022 in “Rheumatology” Juvenile dermatomyositis can worsen quickly and needs strong treatment.
3 citations
,
March 2002 in “Linchuang pifuke zazhi” Most patients with dermatomyositis had skin rash, itching, and muscle weakness, treated mainly with prednisolone and hydroxychloroquine.
30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
October 2025 in “Indian Journal of Paediatric Dermatology” Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
17 citations
,
September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
23 citations
,
December 2008 in “Pediatric neurology” The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
2 citations
,
June 2003 in “American Journal of Dermatopathology” A unique case of skin cancer showed unusual calcification, possibly linked to calcium-binding proteins.
35 citations
,
September 2009 in “Development” Necl2 affects skin cell behavior and slows wound healing.
33 citations
,
October 2014 in “Veterinary Dermatology” Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
3 citations
,
January 2017 in “Dermatology online journal” Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
May 2020 in “International Journal of Dermatology and Venereology” Calcified epidermal cysts are rare, hard skin nodules that are best treated with surgical removal.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Platelet-rich Plasma Gel may help treat en coup de sabre scleroderma, improving symptoms and skin quality with minimal side effects.
15 citations
,
April 1970 in “PubMed” Netherton's syndrome may have a familial link and doesn't always include atopy.
October 2025 in “Clinical Cosmetic and Investigational Dermatology” Targeting specific cell interactions may help treat skin fibrosis.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
January 2023 in “World Journal of Clinical & Medical Images” Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
2 citations
,
April 1970 in “Archives of Dermatology” Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
2 citations
,
September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
2 citations
,
November 1999 in “Journal of Cutaneous Medicine and Surgery”
73 citations
,
April 2010 in “Anais Brasileiros de Dermatologia” Dermoscopy helps diagnose and monitor treatment for hair loss from scarring conditions like discoid lupus and lichen planopilaris.
August 2025 in “International Journal of Research in Dermatology” Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
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.
January 2022 in “Revista Dermatológica Centro Uraga” Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.