98 citations
,
July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
17 citations
,
September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
28 citations
,
July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
3 citations
,
March 2013 in “American Journal of Dermatopathology” Ossification in trichilemmal cysts is more common than previously believed.
6 citations
,
January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
2 citations
,
June 2013 in “Journal of Dermatological Case Reports” Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
43 citations
,
September 2006 in “Annals of Plastic Surgery” A hair wrapped tightly around an infant's toe caused severe damage, requiring early removal and possibly surgery to prevent worse outcomes like amputation.
2 citations
,
January 2014 in “Dermatology Online Journal” Hair-thread tourniquet syndrome needs more awareness and discussion in dermatology.
4 citations
,
August 2018 in “Journal of pediatric neurology” Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
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.
6 citations
,
March 2010 in “Journal of plastic, reconstructive & aesthetic surgery” Laser treatment can fix skin color issues after syndactyly surgery.
September 2016 in “Journal of The American Academy of Dermatology” The girl has a genetic hair condition causing thin hair since childhood.
5 citations
,
March 1981 in “PubMed” A girl grew extra hair in areas where she had insect bites.
125 citations
,
February 2003 in “Journal of the American Academy of Dermatology” The document explains the types of excessive hair growth and how to manage it.
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.
1 citations
,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
5 citations
,
February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
203 citations
,
December 1947 in “Annals of Internal Medicine” August 2025 in “Brazilian Journal of Hair Health” Hair-related body dysmorphic disorder is common in hair loss patients and needs early recognition for proper treatment.
December 2020 in “TURKDERM” A 3-year-old boy was diagnosed with a rare, non-scarring hair loss condition called temporal triangular alopecia.
6 citations
,
October 1998 in “PubMed” Antifungal treatment can improve severe skin infections with cutaneous horns.
11 citations
,
October 2002 in “Genetics” A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.
10 citations
,
January 1925 in “Archives of Dermatology” Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.
1 citations
,
April 2016 in “Journal of Investigative Dermatology” Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
November 2020 in “Journal of The American Academy of Dermatology” Ankle braces reduce motion, while external focus improves hip and knee movements.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.