December 2024 in “Livers” Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
4 citations
,
January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
9 citations
,
May 2016 in “Veterinary dermatology” Long-term oral and topical treatments improved skin condition in a goldendoodle with a genetic disorder.
9 citations
,
May 1989 in “Journal of the Royal Society of Medicine” An elderly woman's swollen, painful foot was found to be caused by a rare type of bone lymphoma, which improved with radiation treatment.
52 citations
,
August 1993 in “Clinical endocrinology” Intravenous and oral calcium effectively treated vitamin D dependent rickets type II, improving growth and bone health.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
18 citations
,
June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
May 2025 in “The Journal of Rheumatology” Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
88 citations
,
October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Patients with this syndrome can have different responses and worsening resistance to treatment over time.
18 citations
,
May 2006 in “Journal of Cutaneous Medicine and Surgery” Linear lichen planopilaris can affect the trunk, not just the face.
January 2024 in “International Journal of Advanced Research” Topical 6% salicylic acid effectively reduced skin plaques in a patient with wooly hair and palmoplantar keratoderma.
15 citations
,
January 2017 in “Experimental Neurology” Finasteride reduces movement issues in Parkinson's disease rats.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
June 2024 in “Indian Journal of Veterinary Medicine” The young goat had anaplasmosis and copper deficiency.
December 1988 in “Journal of The American Academy of Dermatology” The meeting covered new findings in children's skin conditions and treatments, including the benefits of super absorbent polymer diapers.
8 citations
,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
21 citations
,
December 2006 in “Archives of dermatology” A kidney transplant patient developed pink skin bumps with spiny centers on her face and limbs.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
6 citations
,
February 2019 in “JAAD case reports” Acitretin helped improve hand mobility and skin condition in a patient.
May 2020 in “JOJ Dermatology & Cosmetics” A rare skin condition usually on the face was found on a man's heel.
1 citations
,
August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
57 citations
,
March 2011 in “Pediatric Dermatology” Nearly half of children with primary immunodeficiency disorders showed skin problems, often as the first sign of their condition.
26 citations
,
January 2009 in “Annals of Dermatology” Two rare bald spots on the back of the scalp were found to be lupus, not alopecia areata.
October 2020 in “Journal of the American Society of Nephrology” Drospirenone can hide symptoms of certain hormonal disorders, complicating diagnosis.
July 2023 in “Clinical, cosmetic and investigational dermatology” Plica neuropathica can be a sign of schizophrenia and improves with antipsychotic treatment.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
10 citations
,
October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Most skin conditions in Down syndrome are benign and involve dry or thickened skin.