25 citations
,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
8 citations
,
October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
4 citations
,
January 2011 in “European journal of dermatology/EJD. European journal of dermatology” A boy had a rare scalp condition with thickened skin and different-colored hair.
3 citations
,
May 2013 in “Pediatric Dermatology” A newborn girl had a rare case of salivary gland tissue on her chest, which was safely removed.
September 2017 in “Pediatric Dermatology” A 14-year-old boy was diagnosed with a rare hair condition that may lead to hair thinning and has no known effective treatments.
9 citations
,
June 2020 in “JAAD Case Reports” Dissecting cellulitis may have genetic links and can cause permanent hair loss.
10 citations
,
August 2011 in “Clinics” The author clarified that Alopecia Areata Incognita (AAI) and diffuse Alopecia Areata (AA) are different conditions and the case discussed was actually AA, not AAI.
32 citations
,
August 2016 in “Journal of the American Academy of Dermatology” Temporal triangular alopecia is a non-scarring hair loss in children, often linked to other health conditions.
8 citations
,
December 2013 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mouse models help understand alopecia areata and find treatments.
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.
46 citations
,
December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
36 citations
,
July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
4 citations
,
July 2019 in “Clinical and experimental dermatology” Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
1 citations
,
January 2023 in “Annals of Indian Academy of Neurology” Recognizing CVG can help diagnose systemic amyloidosis early.
9 citations
,
November 2000 in “Journal of the American Academy of Dermatology” A woman with a rare type of dermatomyositis improved with low-dose prednisone and methotrexate.
17 citations
,
January 1998 in “Neurourology and Urodynamics” Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
33 citations
,
December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
July 2021 in “Journal of dermatology & dermatologic surgery” IMTA can help regrow hair in severe alopecia areata when JAK inhibitors don't work well.
1 citations
,
December 2012 in “Clinical and Experimental Dermatology” A rare calcium deposit condition was found on a man's scalp.
28 citations
,
January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
12 citations
,
May 2006 in “Journal of Neurology Neurosurgery & Psychiatry” Neuromyotonia and morphoea can occur together in the same body areas.
Trichoscopic examination is crucial for diagnosing congenital triangular alopecia.
January 2024 in “Journal of cutaneous and aesthetic surgery” Scalp injuries and harsh hair care can cause severe hair matting in children.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
42 citations
,
May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.