December 2025 in “Clinical Cosmetic and Investigational Dermatology” Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
2 citations
,
July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
30 citations
,
June 1993 in “The Journal of Cell Biology” The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
4 citations
,
March 1999 in “International Journal of STD & AIDS” Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
101 citations
,
October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
April 2016 in “Journal of The American Academy of Dermatology” People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.
40 citations
,
August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.
January 2024 in “Medicinska istrazivanja” Timely treatment of EPDS can reduce scarring.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
179 citations
,
December 1989 in “Medical Entomology and Zoology” Effective management of ichthyoses requires genetic counseling and appropriate treatments.
4 citations
,
January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
January 2023 in “Open journal of pediatrics” A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
1 citations
,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
3 citations
,
March 2009 in “Hirosaki University Repository for Academic Resources (Hirosaki University)” Hirosaki hairless rats have sparse, twisted hair due to missing hair keratin genes.
14 citations
,
January 1995 in “Archives of Physical Medicine and Rehabilitation” A patient developed excess hair and skin issues on the same side after wearing a cast.
33 citations
,
February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
10 citations
,
May 1974 in “American journal of diseases of children” The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
41 citations
,
January 2000 in “Hormone Research in Paediatrics” Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.
Vogt–Koyanagi–Harada disease can cause rare hair growth on normally hairless thumb skin.
33 citations
,
March 2006 in “Seminars in cutaneous medicine and surgery” The document explains how to identify different hair problems using a microscope.
7 citations
,
October 2020 in “Wiener medizinische Wochenschrift” THA is a rare condition with no significant clinical consequences if thyroid function is normal.
2 citations
,
December 2013 in “Veterinary dermatology” Three dogs with a rare skin condition improved with treatment.
March 2021 in “Revista da Associação Médica Brasileira” 4 citations
,
December 2014 in “Indian Journal of Dermatology” A rare skin condition with cysts was found on a 5-year-old boy's scalp.
April 2023 in “Journal of Investigative Dermatology” Skin cells and immune cells change in a skin condition called hidradenitis suppurativa, and a certain treatment can improve these changes.
Recognizing bamboo hair helps diagnose Netherton’s syndrome.