research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
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660-690 / 1000+ results research Erosive Pustular Dermatosis of the Scalp
Erosive pustular dermatosis of the scalp causes painful, scarring skin lesions on the scalp, mainly in elderly people with sun-damaged skin.
research Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene
An adult with a rare skin condition improved with tazarotene treatment.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research LAMELLAR ICHTHYOSIS: ONE CASE REPORT
Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
research 178 Neutrophil elastase is critical in linear IgA bullous dermatosis in mice
CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
research BJD Editor's Choice
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
research Nevoid basal cell carcinoma syndrome. Some histologic observations on the cutaneous lesions
Nevoid basal cell carcinomas start in the skin's top layer and hair follicles.
research X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab
Dupilumab effectively treats severe skin issues in a rare genetic disorder.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Persistent Milia, Steatocystoma multiplex and Eruptive Vellus Hair Cysts: Variable Expression of Multiple Pilosebaceous Cysts within an Affected Family
Milia, SM, and EVHC may be related conditions, not separate ones.
research Scarring Alopecia in a 66‐Year‐Old Woman
A rare autoimmune disease caused the woman's scalp blisters and hair loss, successfully treated with medication.
research Surgical Management of Severe Cicatricial Ectropion Secondary to Pityriasis Rubra Pilaris.
Surgery can effectively treat severe eyelid turning out caused by a rare skin disorder.
research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research LEKTI: Netherton Syndrome and Atopic Dermatitis
LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research 877 Loss of UBE2N in keratinocytes leads to skin inflammation and immune infiltration through IRAK1/4-mediated processes
Removing UBE2N from skin cells causes inflammation and immune response, which can be lessened with specific inhibitors.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
research Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
A rare skin condition causes red and dark patches on the face and limbs.
research Erosive pustular dermatosis of the scalp following topical ingenol mebutate for actinic keratoses
Two elderly men developed scalp inflammation after using a gel for skin lesions, which healed with treatment except for some permanent hair loss.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.