February 2016 in “Acta Medica Marisiensis” A woman with chronic hepatitis C had a rare skin condition linked to her illness.
January 2020 in “Turkish Journal of Dermatology” Zinc deficiency was the real cause of the boy's symptoms, not a skin infection.
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.
8 citations
,
September 1987 in “Acta Dermato Venereologica” Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
June 2024 in “Australasian Journal of Dermatology” A 13-year-old boy with a rare scalp condition improved significantly with isotretinoin, minoxidil, oral steroids, and antiseptic shampoo.
3 citations
,
June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
9 citations
,
January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
21 citations
,
April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
3 citations
,
September 2018 in “JAAD case reports” A Japanese man with rare skin conditions improved with hydroxychloroquine treatment.
September 2024 in “Journal of the American Academy of Dermatology” The patient responded well to treatment with no disease progression.
21 citations
,
August 2002 in “British Journal of Ophthalmology”
5 citations
,
September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
March 2023 in “Authorea (Authorea)” Early diagnosis and treatment of systemic-onset juvenile idiopathic arthritis are crucial for improvement.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
March 2021 in “Annals of King Edward Medical University” Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
October 2020 in “Our Dermatology Online” Chronic bacterial infections of hair follicles can cause ongoing skin inflammation.
2 citations
,
September 2002 in “Pediatric Dermatology” Newborns with hair loss and red, scaly skin need thorough skin checks to find the cause and treatment.
August 2025 in “International Journal of Research in Dermatology” Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
23 citations
,
January 1964 in “Archives of Dermatology” Treatment with vitamin A did not improve the child's skin condition.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
1 citations
,
January 2014 in “The Journal of Dermatology” A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
5 citations
,
January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” Congenital atrichia with papular lesions causes permanent hair loss in children.
December 2022 in “Gastroenterology” A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
5 citations
,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
June 2018 in “Journal of the American Veterinary Medical Association” Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
February 2021 in “International journal of research in dermatology” A boy's hair, nails, and skin improved after 6 months of steroid treatment.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.