February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
19 citations
,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
April 2024 in “Current Rheumatology Reviews” MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
October 1984 in “Kidney international” The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
35 citations
,
October 2014 in “Wound Repair and Regeneration” The model helps understand scar contraction and develop new treatments.
12 citations
,
January 1998 in “Clinical Infectious Diseases” A kidney transplant patient developed leprosy, likely due to immunosuppression and genetic factors, and improved with treatment.
18 citations
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July 2010 in “Journal of the American Academy of Dermatology” Folliculotropic mycosis fungoides can look like alopecia areata.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
28 citations
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January 2007 in “Journal of dermatology” Three white adults had a rare scalp condition with increased fat and sometimes hair loss, suggesting it's not limited to black women and might be more widespread.
11 citations
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September 1999 in “Journal of the European Academy of Dermatology and Venereology” Immunomodulatory therapies are effective for treating cutaneous lymphoma, particularly in early stages.
A man had a rare pigmented nodule on his scalp that developed from birthmarks.
Pilomatricoma is a rare, harmless skin lump that needs accurate diagnosis and timely treatment.
13 citations
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March 2000 in “Veterinary Dermatology” Dogs have a skin condition like human pseudopelade, causing hair loss that doesn't improve with treatment.
13 citations
,
November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
34 citations
,
January 1998 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Trichoblastomas may mimic fetal skin development by having many Merkel cells, unlike adult skin.
18 citations
,
February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
8 citations
,
August 1986 in “Journal of Investigative Dermatology” December 2014 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Hair removal with intense pulsed light can cause rare skin lesions that are hard to fully treat.
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.
May 2021 in “Indian journal of forensic medicine and toxicology” Two patients with heart issues had successful surgeries and improved symptoms.
2 citations
,
November 2020 in “The American journal of dermatopathology/American journal of dermatopathology” Sweat duct differentiation in trichilemmal cysts is very rare and can be successfully removed with surgery.
16 citations
,
March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
January 2022 in “Indian journal of paediatric dermatology” A baby had a rare case of widespread milia, which was treated and is being monitored.
1 citations
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June 2021 in “Curēus” A woman with hair loss had a benign sweat duct tumor found during a scalp biopsy.
79 citations
,
June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
14 citations
,
January 1998 in “Dermatology” Polythelia pilosa is a type of extra breast tissue with hair and should be classified as such.
27 citations
,
December 1999 in “American Journal of Dermatopathology” Necrobiosis lipoidica may need new criteria for accurate diagnosis due to similarities with another condition.