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.
1 citations
,
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Topical patidegib gel effectively treats basal cell carcinoma in Gorlin syndrome patients without causing the side effects seen with oral treatments.
1 citations
,
December 2017 in “Anais Brasileiros de Dermatologia” Frontal fibrosing alopecia can mimic traction alopecia but has distinct features like facial papules and eyebrow thinning.
5 citations
,
February 2015 in “Egyptian Journal of Ear Nose Throat and Allied Sciences” A rare benign cheek tumor was successfully removed from a 15-year-old girl without complications or recurrence.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
4 citations
,
November 2019 in “Dermatology - Open Journal” Lichen planus pigmentosus is hard to treat and may be more common in North Africa than previously thought.
August 2018 in “Journal of The American Academy of Dermatology” A 90-year-old woman's hand lesion was a rare, aggressive skin cancer treated successfully with surgery.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
October 2023 in “European Journal of Dermatology” Combining hair transplantation with PRP is more effective for treating hair loss than hair transplantation alone.
A woman with a rare hair loss condition developed skin cancer in the bald area.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
October 2013 in “International Journal of Pediatric Endocrinology/International journal of pediatric endocrinology” A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
August 2025 in “Indian Dermatology Online Journal” Early recognition and treatment of EPDS are crucial to prevent permanent hair loss.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
January 2015 in “Journal of Neuromuscular Diseases” Danon disease can be hard to diagnose due to non-specific symptoms.
July 2015 in “Actas Dermo-Sifiliográficas” A young woman with a rare fungal infection showed significant improvement after treatment with antifungal medication.
84 citations
,
June 1970 in “Journal of Investigative Dermatology”
6 citations
,
April 2013 in “International Journal of Dermatology” Dermoscopy helps diagnose unusual skin lesions like osteonevus of Nanta and can prevent misdiagnosis of serious conditions.
February 2013 in “Journal of The American Academy of Dermatology” Oral propranolol successfully treated a baby's skin growth and ulceration linked to PELVIS syndrome.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
4 citations
,
August 1991 in “The Journal of Dermatology” The tumor on the man's nose was a rare type called pedunculated follicular hamartoma.
February 2020 in “International Journal of Research in Dermatology” EPDS is a rare, chronic scalp condition that's hard to treat and needs better awareness for improved outcomes.
November 2022 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by themselves.
February 2026 in “The Laryngoscope” Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.
38 citations
,
July 1998 in “Journal of surgical oncology” A woman with breast cancer developed a rare condition causing excessive fine hair growth on her face and body.
April 2021 in “Authorea (Authorea)” A 20-year-old woman had stable Progressive Hemifacial Atrophy and Vitiligo after treatment, suggesting a possible link between the conditions.
20 citations
,
November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
19 citations
,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
January 2024 in “Skin Appendage Disorders”