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.
August 2022 in “Case reports in medicine” Long eyelashes in a patient were an unusual sign of systemic lupus erythematosus.
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
20 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
January 2011 in “Yearbook of Dermatology and Dermatologic Surgery”
30 citations
,
June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
July 2025 in “Dermatology Practical & Conceptual” Topical eyedrops may cause eyelash whitening and skin lightening around the eyes.
2 citations
,
January 2016 in “Journal of clinical & experimental dermatology research” Acrodermatitis Enteropathica is a rare skin condition treated effectively with zinc supplements, and early diagnosis is key.
12 citations
,
January 2005 in “Pediatric Dermatology” Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
5 citations
,
August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
October 2025 in “Indian Journal of Paediatric Dermatology” Zinc treatment improved skin and hair issues in a boy with a zinc-related condition.
21 citations
,
January 2008 in “Indian Journal of Dermatology Venereology and Leprology”
Vogt–Koyanagi–Harada disease can cause rare hair growth on normally hairless thumb skin.
September 2023 in “Cutis” A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
8 citations
,
January 2019 in “JAAD Case Reports” EPDS can cause recurring scalp sores and hair loss if not treated.
5 citations
,
February 2015 in “Ophthalmic plastic and reconstructive surgery” Two new types of eyelid cysts were identified, each with different treatment challenges.
October 2014 in “Microscopy” The method using ionic liquid improves observation of cell structures with less damage.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
4 citations
,
January 2017 in “PubMed” A girl with lupus had unusually long and thick eyelashes, a rare symptom of her condition.
2 citations
,
December 2013 in “Veterinary dermatology” Three dogs with a rare skin condition improved with treatment.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair 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.
8 citations
,
September 2016 in “The American Journal of Dermatopathology” Enlarged sweat gland ducts may indicate scarring hair loss.
44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.