research 42761 The elusive BAP1 mutation in pediatric melanocytic tumors
BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
Search
for
Sort by
Research
480-510 / 1000+ resultsresearch THE LOS ANGELES DERMATOLOGICAL SOCIETY
A 19-year-old female with alopecia universalis experienced total hair loss, and previous treatments were ineffective.
research Scarring alopecia and nail loss in a patient with epidermolysis bullosa acquisita
Untreated epidermolysis bullosa acquisita can cause total hair and nail loss.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
research Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin
Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.
research Human ClinicalPhenotype Associated with FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: a Case Report
A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review
Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
research LOS ANGELES DERMATOLOGICAL SOCIETY
The girl has an inflammatory type of scarring hair loss.
research Keratosis follicularis spinulosa decalvans in a family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research Ichthyosis, atopic dermatitis, and alopecia
research Keratosis Follicularis
Keratosis Pilaris Atrophicans causes skin scarring and might be treated with a new synthetic retinoid.
research First symposium on natural gene therapy of the skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research Generalized Asymptomatic Cutaneous Pits and Comedones in a Young Woman
The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
research Alopecia triangularis congenita in combination with androgenetic alopecia
Hair loss improved with treatment and successful transplant.
research Scarring Alopecia With Coexisting Lichen Planus in a Child: A Rare Phenomenon
A child had a rare case of scarring hair loss with skin disease, which is hard to treat and stressful.
research Alopecia Mucinosa
Alopecia mucinosa causes red, raised skin patches and hair loss.
research Congenital hair loss disorders: Rare, but not too rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Childhood epidermolysis bullosa acquisita during squaric acid dibutyl ester immunotherapy for alopecia areata
A 6-year-old boy's skin condition improved after stopping a specific treatment and starting new medications.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Superficial dermatophytosis in early neonatal period: Two uncommon cases
Two newborns with rare skin infections were successfully treated with antifungal cream.
research Facial Follicular Spicules: A Rare Cutaneous Presentation of Trichodysplasia Spinulosa
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
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 Trachyonychia with juvenile pityriasis rubra pilaris
A young boy with a rare skin and nail condition improved significantly with simple topical treatments.