5 citations
,
January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
August 2019 in “Blucher Medical Proceedings” Lupus Panniculitis can be an early sign of Systemic Lupus Erythematosus.
October 2023 in “Journal of the Endocrine Society” A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.
August 2025 in “Ophthalmic Plastic and Reconstructive Surgery” Selumetinib significantly reduced tumor size and improved vision in a child with neurofibromatosis type 1.
2 citations
,
November 2023 in “Indian Dermatology Online Journal” A 4-year-old girl with a rare lupus condition was successfully treated with oral corticosteroids, leading to full recovery and hair regrowth.
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
132 citations
,
July 2000 in “Lupus” In Italian patients with lupus, the most common skin issue was chronic cutaneous lupus, especially discoid lesions, and nonspecific skin problems occurred in about a third of those with systemic lupus, mainly during active disease.
May 2024 in “Australasian journal of dermatology” A man with a type of skin lymphoma had unusual yellowish skin growths despite normal blood lipid levels, and treatment reduced some symptoms but not the growths.
26 citations
,
May 1991 in “Clinical and experimental dermatology” Oral etretinate improved hair length and reduced beading in monilethrix.
March 2024 in “Intisari Sains Medis” Low free thyroxine (FT4) is common in young lupus patients and needs quick diagnosis and treatment.
11 citations
,
November 1990 in “Archives of Dermatology” A woman developed a persistent skin rash and hair loss from a condition linked to her increased L-tryptophan intake.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
6 citations
,
May 2000 in “Pediatric Dermatology” KID syndrome should be reclassified as an ectodermal dysplasia.
80 citations
,
March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
27 citations
,
December 2015 in “Clinical and Experimental Dermatology” Diphencyprone helped most patients with alopecia areata regrow some hair.
December 2023 in “The Sri Lanka Journal of Dermatology” A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
3 citations
,
October 2019 in “JAAD Case Reports” Two patients with lupus had an unusual type of hair loss not typical for the disease but improved with treatment.
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
46 citations
,
January 2015 in “Pediatric Rheumatology” Skin symptoms are important for diagnosing and managing juvenile-onset systemic lupus erythematosus and usually get better with treatment.
January 2026 in “Case Reports in Dermatological Medicine” Lichen Planus in siblings may be influenced by genetics and environment.
10 citations
,
March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
Tumid lupus erythematosus can cause non-scarring hair loss on the scalp and requires careful diagnosis.
16 citations
,
April 2016 in “Medicine” Early treatment and regular check-ups are crucial for lupus patients to prevent progression and improve outcomes.
January 2015 in “Journal of Neuromuscular Diseases” Danon disease can be hard to diagnose due to non-specific symptoms.
5 citations
,
May 2015 in “JRSM open” If a child is losing a lot of eyelashes and it keeps happening, doctors should look carefully at their health history because it might be a sign of a different health problem.
November 2007 in “Pediatrics in review” A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
January 2017 in “International journal of biomedical engineering and clinical science” Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
1 citations
,
September 2015 in “Serbian Journal of Dermatology and Venereology/Serbian Journal of Dermatology and Venerology” A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.