12 citations
,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
17 citations
,
May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
January 1983 in “Side effects of drugs annual” Beta-blockers and anti-anginal medications have various side effects and interactions that require careful monitoring and individualized treatment.
19 citations
,
March 2022 in “Molecular therapy. Nucleic acids” A specific RNA, circNlgn, contributes to heart damage and scarring caused by the cancer drug doxorubicin.
6 citations
,
January 2019 in “Journal of feline medicine and surgery open reports” A cat with severe skin issues improved with dexamethasone and cetirizine.
4 citations
,
January 2019 in “Obstetrics & gynecology science” A PET-CT scan successfully located a hard-to-find Leydig cell tumor in a woman with hormonal symptoms.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
April 2020 in “Journal of the Endocrine Society” A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
6 citations
,
July 2018 in “DOAJ (DOAJ: Directory of Open Access Journals)” A woman had a rare liver tumor causing male-like physical changes, highlighting the need for thorough checks when such symptoms appear.
4 citations
,
January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
3 citations
,
January 2019 in “Case Reports in Ophthalmology” VKHD and sarcoidosis may share a common cause.
October 2022 in “Amplla Editora eBooks” 2 citations
,
May 2016 in “Journal of dermatology” Tissue expansion successfully treated alopecia in a child with hypohidrotic ectodermal dysplasia.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
April 2019 in “Journal of the Endocrine Society” A rare adrenal tumor in a woman only made DHEA-S, causing hair thinning, and was removed, fixing the hormone level.
September 2006 in “Pediatrics in Review” Early diagnosis and treatment are crucial for complex medical conditions.
February 2021 in “Pakistan Armed Forces Medical Journal” A rare skin condition usually found near the eyes was found on a farmer's scalp.
4 citations
,
January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
May 2022 in “Голова и шея.” COVID-19-positive patients with prosthetic speech implants face increased risks and need special care.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
125 citations
,
August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
4 citations
,
October 2019 in “Case Reports” A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
July 2025 in “Journal of Cutaneous Pathology” Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
6 citations
,
December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
July 2025 in “SVU-International Journal of Medical Sciences” Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.