December 2024 in “Livers” Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
19 citations
,
August 2020 in “Gastroenterology report” There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
14 citations
,
June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
1 citations
,
May 2019 in “The Journal of Pediatrics” The baby's hair loss was due to congenital syphilis, which was treated with penicillin.
21 citations
,
January 1999 in “Molecular and Cellular Biochemistry” Niacin deficiency makes rats more sensitive to cancer-causing chemicals.
2 citations
,
June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
6 citations
,
July 1990 in “The Journal of Pediatrics” A boy with toxic shock syndrome had severe heart rhythm problems but recovered with treatment.
1 citations
,
December 2022 in “Pediatric dermatology” A boy developed a rare skin condition after recovering from a severe skin reaction, and it improved with lotion treatment.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
1 citations
,
April 2025 in “Clinical Cosmetic and Investigational Dermatology” A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
September 2021 in “CRC Press eBooks” Acne keloidalis nuchae is a hair loss condition affecting men of African descent, causing scar-like bumps on the scalp and neck.
25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
7 citations
,
October 2020 in “Wiener medizinische Wochenschrift” THA is a rare condition with no significant clinical consequences if thyroid function is normal.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
16 citations
,
March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
69 citations
,
August 1999 in “Developmental biology” The nude gene causes skin cell overgrowth and improper development, leading to hair and urinary issues.
November 2025 in “Skin Health and Disease” Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.
2 citations
,
August 2020 in “JCRPE” A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
4 citations
,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
July 2025 in “Dermatology Practical & Conceptual” Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
26 citations
,
January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
12 citations
,
March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
January 2020 in “Acta dermato-venereologica” People with certain hair disorders may also have missing permanent teeth.
3 citations
,
January 2020 in “JAAD Case Reports” A girl had two rare hair conditions that helped understand their overlap.
8 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
17 citations
,
December 2009 in “Journal of Pediatric Orthopaedics” Two babies needed surgery to remove hair tightly wrapped around their toes to prevent serious injury.