62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
41 citations
,
December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.
November 2022 in “Journal of The Pakistan Dental Association” Oral ulcers are common in SLE patients and often link to other symptoms.
March 2023 in “Indian Journal of Rheumatology” Testing for various autoantibodies in Indian children with lupus can help predict disease symptoms and risks.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
40 citations
,
February 1990 in “Journal of The American Academy of Dermatology” A 17-year-old developed woolly hair nevus in adolescence, which is unusual, and over time the hair darkened and straightened slightly, but microscopic changes persisted.
18 citations
,
February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
12 citations
,
January 2017 in “Skin appendage disorders” Two patients with skin lupus were mistakenly thought to have a different scalp condition but improved with lupus treatment.
1 citations
,
November 2024 in “Journal of Investigative Dermatology” Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.
February 2025 in “Indian Dermatology Online Journal” Pincer nails are rare in lupus patients and may be managed conservatively.
5 citations
,
February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
1 citations
,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
January 2026 in “Indian Journal of Ophthalmology - Case Reports” Trichilemmal cysts can appear on children's eyelids and may be mistaken for other conditions.
19 citations
,
July 2017 in “Clinical and experimental dermatology” Men with lichen planopilaris had earlier onset than women, and treatment usually improved the condition.
1 citations
,
September 2022 in “European Journal of Dermatology” Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
2 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
This case report discusses a 67-year-old woman with Netherton syndrome (NS), a genetic disorder characterized by skin inflammation and hair defects, specifically Trichorrhexis invaginata (TI). The patient was treated with dupilumab, a biologic known for addressing cutaneous inflammation. After 3 months, the patient experienced significant improvements in skin rash, pruritus, and quality of life. Notably, the treatment led to the normalization of hair shafts and promoted hair growth, resolving the "bamboo" hair characteristic of TI. This case highlights dupilumab's potential in addressing hair abnormalities associated with NS, an area not extensively covered in current literature.
This case report discusses a 67-year-old woman with Netherton syndrome (NS), a genetic disorder characterized by skin inflammation and hair defects, specifically Trichorrhexis invaginata (TI). The patient was treated with dupilumab, a biologic known for addressing cutaneous inflammation. After 3 months, the patient experienced significant improvements in skin rash, pruritus, and quality of life. Notably, the treatment led to the normalization of hair shafts and promoted hair growth, resolving the "bamboo" hair characteristic of TI. This case highlights dupilumab's potential in addressing hair abnormalities associated with NS, an area not extensively covered in current literature.
February 2026 in “Cosmetics” Perifollicular elastolysis is poorly understood, with limited treatment options and inconsistent results.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
November 2012 in “The Journal for Nurse Practitioners” Systemic lupus erythematosus is a complex autoimmune disease mainly affecting women, with varied symptoms and unknown exact cause.
12 citations
,
January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” A mother and daughter with similar hair loss conditions and identical HLA types suggest a genetic link between the conditions.
1 citations
,
January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
June 2016 in “Journal of Evolution of Medical and Dental Sciences” Young women with lupus often have oral ulcers.