20 citations
,
June 2019 in “JAAD Case Reports” Tofacitinib can cause skin eruptions similar to palmoplantar pustulosis.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
1 citations
,
January 2026 in “International Journal of Dermatology” Dupilumab can cause unexpected scalp issues, so early symptom recognition is important to avoid hair loss.
2 citations
,
May 2020 in “JAAD case reports” Ruxolitinib can cause a delayed skin reaction on the nose.
March 2023 in “Authorea (Authorea)” Early diagnosis and treatment of systemic-onset juvenile idiopathic arthritis are crucial for improvement.
5 citations
,
February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
July 2016 in “Reumatología Clínica (English Edition)” The patient with Ankylosing Spondylitis had shoulder joint damage and bone changes.
1 citations
,
April 2013 in “Journal of Investigative Dermatology”
40 citations
,
December 2014 in “Indian Journal of Dermatology” Two new signs, 'signet ring vessels' and 'hidden hairs,' help tell apart scalp psoriasis and seborrheic dermatitis.
1 citations
,
October 2022 in “Rheumatology” RHUPUS should be considered in children with deforming arthritis.
9 citations
,
July 2010 in “British Journal of Dermatology” The document suggests a rare skin condition might be caused by a genetic phenomenon.
5 citations
,
October 2024 in “Reumatismo” Upadacitinib significantly improved alopecia universalis and psoriatic arthritis in a patient.
8 citations
,
November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
November 2007 in “Pediatrics in review” A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
December 2025 in “Journal of Human Immunity” JAK inhibitors may help improve symptoms in adults with APECED.
March 2025 in “European Journal of Medical Genetics” Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
12 citations
,
December 2021 in “Dermatology” Trichoscopy can help diagnose and assess disease activity in connective tissue diseases by identifying specific hair and scalp signs.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
Tofacitinib significantly improved hair loss and lesions in a patient with overlapping autoimmune disorders.
November 2025 in “Biomedicines” JAK1 inhibitors can help reduce itchiness in atopic dermatitis.
Tofacitinib significantly improved symptoms in a patient with overlapping autoimmune disorders.
August 2023 in “Journal of the American Academy of Dermatology” CCCA affects Black men too, with a genetic link found in the PADI3 gene.
October 2022 in “Clinical Cosmetic and Investigational Dermatology” Pneumatic compression can cause skin bruising even in healthy individuals.
1 citations
,
January 2023 in “Journal of Drugs in Dermatology” Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.