research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
Search
for
Sort by
Research
270-300 / 1000+ resultsresearch Cutaneous Focal Mucinosis: A Case Report
A rare skin condition in children can look like other diseases.
research Multiple Myeloma–Associated Amyloidosis Presenting With Acrolocalized Acquired Cutis Laxa
A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.
research Congenital milia En plaque on scalp
A rare skin condition with cysts was found on a 5-year-old boy's scalp.
research Resolution of pseudoainhum with acitretin therapy in a patient with palmoplantar keratoderma and congenital alopecia
Acitretin helped improve hand mobility and skin condition in a patient.
research A Case of Congenital Alopecia Areata Successfully Diagnosed by Integrating Clinical, Trichoscopic, and Scalp Biopsy Findings
Scalp biopsies are essential for diagnosing congenital alopecia areata.
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research sQuiz your knowledge! Anogenital and distal erythema, alopecia, and diarrhoea
CAL-PDT is safer and more effective for treating actinic keratosis on the scalp.
research Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Nevus Comedonicus (Blaschkoid Variant)
A 14-year-old boy has a skin condition called nevus comedonicus, treated with tretinoin cream.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Unilateral keratosis pilaris atrophicans faciei mimicking follicular mucinosis
A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
research Ichthyosis hystrix
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
research PA31 Congenital alopecia areata: a systematic review
Congenital alopecia areata may have genetic links and topical corticosteroids are an effective treatment.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research [Nevus comedonicus. A rare skin disease of the hair follicles].
Nevus comedonicus is a rare skin condition causing dark bumps, treatable with retinoic acid or surgery.
research Effects of androgen overproduction on skin target organs in children with congenital adrenal hyperplasia
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Commonly associated disorders with complete scalp alopecia in early childhood: A review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.