October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” The patient has a rare skin condition that shows features of two known disorders.
7 citations
,
March 2018 in “Experimental Dermatology” Acne lesions don't show increased keratinocyte growth compared to healthy hair follicles.
February 2026 in “Pediatric Dermatology” 8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
6 citations
,
October 1998 in “PubMed” Antifungal treatment can improve severe skin infections with cutaneous horns.
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.
9 citations
,
June 2003 in “Veterinary dermatology” Boxer dogs may have a genetic skin condition that worsens seasonally and can be treated with certain medications.
53 citations
,
May 1988 in “Journal of Molecular Evolution”
15 citations
,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
13 citations
,
June 2011 in “PubMed” The patient improved significantly after treatment, with only one small scar remaining.
16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
April 2016 in “JAMA Dermatology” Acne is not a key diagnostic feature for PCOS, postadolescent men with acne may have insulin resistance, melanoma patients often have few moles, tumor size in CSCC indicates higher risk of serious outcomes, and hidradenitis suppurativa is linked to higher risk of heart problems and death.
January 2012 in “Yearbook of Dermatology and Dermatologic Surgery” Studying acne-related syndromes helps us understand acne causes and can lead to new treatments.
12 citations
,
November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
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
,
March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
2 citations
,
January 2007 in “Actas Dermo-Sifiliográficas” Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
35 citations
,
September 1994 in “Journal of Investigative Dermatology” 61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
12 citations
,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
23 citations
,
February 2015 in “The American journal of pathology” Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
27 citations
,
February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
2 citations
,
October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
January 2022 in “Indian journal of paediatric dermatology” A baby had a rare case of widespread milia, which was treated and is being monitored.
8 citations
,
May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” The hair defect is due to abnormal inner root sheath keratinization.