39 citations
,
January 1998 in “Dermatology” Milia, SM, and EVHC may be related conditions, not separate ones.
1 citations
,
January 2019 in “Dermatology Online Journal” A rare skin condition appeared on a 19-year-old woman's scalp.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
2 citations
,
May 1991 in “PubMed” Nevus comedonicus is a rare skin condition causing dark bumps, treatable with retinoic acid or surgery.
November 2022 in “JAAD case reports” A man with skin and hair symptoms improved partially with specific treatment.
41 citations
,
January 1992 in “Journal of medical genetics” The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
87 citations
,
March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
2 citations
,
May 2014 in “PubMed” A 10-year-old boy was diagnosed with a rare scalp condition causing hair loss and treated with a topical cream.
11 citations
,
November 1996 in “Pediatric dermatology” Trichostasis spinulosa can look like acne but usually affects adults, not children.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
1 citations
,
October 2020 in “Research Square (Research Square)” Abnormal Wnt signaling in hair follicle stem cells can lead to acne-like cysts.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
32 citations
,
May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
14 citations
,
June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
9 citations
,
October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
April 2024 in “Anais Brasileiros de Dermatologia” 26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
43 citations
,
November 2018 in “Nature Communications” Genetic variations affecting skin structure play a key role in severe acne.
June 2022 in “Indian Dermatology Online Journal” A man with total hair loss developed blackhead-like spots on his scalp, possibly because no hair was present to help drain oils.
6 citations
,
January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
7 citations
,
February 2002 in “Veterinary Dermatology” Intracorneal vacuoles are common in parakeratotic skin diseases in dogs, especially with more parakeratosis.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
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.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
1 citations
,
March 2006 in “Journal of Cosmetic Dermatology” The woman's forehead lesion was caused by ointment use and resolved with treatment.
1 citations
,
January 2009 A 25-year-old Malay fireman had skin bumps on his neck that were removed successfully after other treatments failed.
18 citations
,
April 2002 in “Journal of cutaneous pathology” Tiny infundibular cysts are the main lesions in chloracne, not comedones.
7 citations
,
January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.