research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
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930-960 / 1000+ resultsresearch Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Alopecia areata‐like pattern: A new unifying concept
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research A Neonate with Blisters
The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Nevus Comedonicus (Blaschkoid Variant)
A 14-year-old boy has a skin condition called nevus comedonicus, treated with tretinoin cream.
research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research Cutaneous Focal Mucinosis: A Case Report
A rare skin condition in children can look like other diseases.
research A case of cutis verticis gyrata developing in a patient with primary scarring alopecia: A unique presentation of a rare disorder
A rare scalp condition, cutis verticis gyrata, was found in a woman with primary scarring alopecia.
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.
research Scarring Alopecia
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Transient Bullous Dermolysis of the Newborn
The newborn's skin condition improved over time, leaving only lighter skin patches.
research Lack of Scalp and Body Hair on an 11-Month-Old Girl
An 11-month-old girl has no scalp or body hair, and the cause is being studied.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research Laser ablation of abnormal skin pigmentation post syndactyly release
Laser treatment can fix skin color issues after syndactyly surgery.
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 Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
research Nevus lipomatosus cutaneous superficialis with perifollicular fibrosis.
A rare skin condition in a baby showed unusual fat and hair follicle changes.
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 Correspondence
RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
research Clinical case of alopecia totalis in pediatric practice
An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
research Ulerythema Ophryogenes
Treatment with vitamin A did not improve the child's skin condition.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research A new familial presentation of dissecting cellulitis: The genetic implications on scarring alopecias
Dissecting cellulitis may have genetic links and can cause permanent hair loss.