November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
2 citations
,
September 2018 in “JAAD case reports” A rare type of skin cancer with mucosal involvement was partially treated but eventually relapsed.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
30 citations
,
October 1994 in “Journal of Cutaneous Pathology” Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
January 2025 in “Indian Journal of Paediatric Dermatology” Biopsy is crucial to correctly diagnose granuloma annulare, which can mimic other conditions like alopecia mucinosa.
June 2018 in “Journal of Clinical Periodontology” A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.
Vogt–Koyanagi–Harada disease can cause rare hair growth on normally hairless thumb skin.
76 citations
,
October 2000 in “Journal of the American Academy of Dermatology” Follicular mucinosis can be an early sign of aggressive mycosis fungoides.
3 citations
,
April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
January 2020 in “Advanced ultrasound in diagnosis and therapy” Epidermoid cysts can be better diagnosed with ultrasound by recognizing specific features and using clinical information.
August 2025 in “Ophthalmic Plastic and Reconstructive Surgery” Selumetinib significantly reduced tumor size and improved vision in a child with neurofibromatosis type 1.
March 2022 in “JAAD case reports” A man had a non-cancerous, fast-growing skin lump on his arm that was removed with surgery.
23 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
58 citations
,
April 2012 in “Journal of the American Academy of Dermatology” Graft-versus-host disease is a complication where donor immune cells attack the recipient's body, often affecting the skin, liver, and gastrointestinal tract.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
April 2020 in “Journal of the Endocrine Society” A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
3 citations
,
December 2013 in “American Journal of Dermatopathology” A rare skin growth in a baby was successfully removed without coming back.
6 citations
,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
September 2013 in “Science” Certain astrocytes can protect the brain and improve recovery after a stroke, and a hair loss drug might reduce cancer spread.
17 citations
,
November 2017 in “PLoS ONE” Transplanted bone marrow cells actively move, form clusters, and grow after transplantation.
2 citations
,
January 2011 in “Dermatologica Sinica” Taiwan reported its first case of a rare scalp condition with no clear cause or treatment.
56 citations
,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
April 2020 in “Journal of the Endocrine Society” Type 3 acromegaly patients have more health issues and higher death risk.
3 citations
,
October 2023 in “Journal of Pain” Certain proteins might predict surgical success in trigeminal neuralgia treatment.
3 citations
,
November 2010 in “The Journal of Dermatology” A giant blue nevus on the scalp can cause hair loss and may damage underlying structures.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
19 citations
,
July 2004 in “Clinical and experimental dermatology” Acneiform follicular mucinosis can be controlled with systemic corticosteroids.
A 16-year-old girl with gum overgrowth and excessive hair growth had successful gum surgery and healed well.
3 citations
,
February 2004 in “Anais Brasileiros De Dermatologia” There's a red birthmark on the scalp.