August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
13 citations
,
June 2010 in “Journal of The American Academy of Dermatology” A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
31 citations
,
December 1997 in “Developmental Medicine & Child Neurology” Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
1 citations
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January 2019 in “Pan African Medical Journal” Keratosis pilaris causes small skin bumps, mainly in women, and treatments offer only temporary relief.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
38 citations
,
March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
June 2024 in “British Journal of Dermatology” A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
3 citations
,
April 2012 in “Internal and Emergency Medicine” The girl's swelling and skin issues improved with fluid restriction and diuretics.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
2 citations
,
April 1970 in “Archives of Dermatology” Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
5 citations
,
August 2001 in “International Journal of Dermatology” A 20-year-old had hair loss and skin issues from lichen planopilaris starting at age 10.
9 citations
,
April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
2 citations
,
August 2014 in “Archivos argentinos de pediatría” A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
October 2025 in “Journal of the Endocrine Society” A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
August 2018 in “Journal of The American Academy of Dermatology” A 54-year-old man with painful skin blisters and fever was diagnosed with Sweet syndrome and successfully treated with corticosteroids.
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.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
September 2024 in “Cosmoderma” The young man has complete hair loss and skin bumps, with no other health issues or family history.
June 2026 in “The Journal of Dermatology”
16 citations
,
January 2014 in “International Journal of Trichology” Early hair loss links to metabolic issues in young Indian men.
23 citations
,
January 1964 in “Archives of Dermatology” Treatment with vitamin A did not improve the child's skin condition.
January 2024 in “Arquivos de Neuro-Psiquiatria” Consider THPP in patients with muscle weakness and low potassium, as it is often underdiagnosed.
2 citations
,
January 2000 in “Pediatrics in review” Early sexual development in children, especially girls, can be treated with hormone therapy to improve adult height and requires support for the child and family.
8 citations
,
August 1970 in “JAMA” Excessive vitamin A can cause symptoms that mimic serious brain conditions.
September 2025 in “Ukrainian Journal of Dermatology Venerology Cosmetology” Early diagnosis and treatment can stop hair loss and prevent scalp damage in pseudopelade of Brocq.
August 2025 in “Indian Dermatology Online Journal” Early recognition and treatment of EPDS are crucial to prevent permanent hair loss.
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.
10 citations
,
September 1994 in “International Journal of Dermatology” Three Iranian men had reddish-brown facial pigmentation with no effective treatment.