22 citations
,
January 2014 in “Indian Journal of Endocrinology and Metabolism” Family members of North Indian women with PCOS have a high rate of metabolic syndrome.
6 citations
,
January 2011 in “European Journal of Dermatology” It's important to consider genetic hair disorders when diagnosing hair loss.
2 citations
,
March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
8 citations
,
June 2012 in “Journal of Crohn s and Colitis” Managing multiple autoimmune diseases in one patient is extremely challenging.
39 citations
,
January 1998 in “Dermatology” Milia, SM, and EVHC may be related conditions, not separate ones.
1 citations
,
September 2017 in “BMJ” The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
45 citations
,
May 2002 in “International Journal of Dermatology” Prednisone may cause multiple skin nodules in lupus patients.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
5 citations
,
June 2008 in “British Journal of Dermatology”
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
1 citations
,
April 2024 in “Sri Lanka Journal of Obstetrics and Gynaecology/Sri Lanka Journal Of Obstetrics and Gynaecology” PCOS is a common hormonal disorder in women that can lead to serious health problems.
39 citations
,
September 2012 in “Human Reproduction” Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
11 citations
,
April 2012 in “American Journal of Dermatopathology” Adenolipomas may develop from gland entrapment by fat tissue, showing complex and varied forms.
A rare case of a benign hair follicle tumor with unusual skin changes highlights the need for timely diagnosis to prevent potential cancer.
2 citations
,
May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
4 citations
,
February 2022 in “International Journal of Dermatology” Porocarcinoma generally has low rates of recurrence, spread to lymph nodes, and death.
October 2017 in “The Egyptian Journal of Hospital Medicine ” More young women are getting diagnosed with PCOS, which can lead to other health problems, but early treatment can help.
99 citations
,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
17 citations
,
January 2014 in “Journal of Oral and Maxillofacial Pathology” Seborrheic keratosis is a common, harmless skin growth that can look like cancer, so it may need a biopsy.
4 citations
,
October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
January 2007 in “Linchuang pifuke zazhi” A 15-year-old boy had a rare skin growth on his buttock.
292 citations
,
April 2024 in “Nature Reviews Disease Primers” Early diagnosis and treatment of PCOS are crucial to reduce health risks and costs.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
38 citations
,
June 2005 in “International Journal of Dermatology” A man with nevus comedonicus syndrome had multiple skin issues, including basal cell carcinomas, which improved with treatment.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
4 citations
,
March 2021 in “International Journal of Environmental Research and Public Health” Women with PCOS have higher body fat and skinfold thickness, especially in the H-O-POM phenotype.