research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
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510-540 / 1000+ resultsresearch Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement
The patient's hair improved after treatment, but the genetic link is unclear.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection
Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Acquired constriction ring syndrome as a cause of inconsolable cry in a child: a case report
A hair tightly wrapped around a toddler's toe caused severe crying and was treated by surgery.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Dermoscopy of Graham–Little–Piccardi–Lassueur Syndrome
Dermoscopy helps diagnose rare GLPLS in males.
research KERION MICROSPORICUM WITH HEMATOGENOUS AND ECTOGENOUS MICROSPORIDS
A rare scalp infection in a child developed into a kerion with additional skin symptoms.
research [Sodium valproate-induced kinky hair].
A medication called sodium valproate likely caused a girl's hair to become kinky and dry.
research Parry-Romberg Syndrome Augmented by Hyaluronic Acid Filler
Hyaluronic acid filler can safely and effectively improve facial contour in Parry-Romberg Syndrome.
research A distinct cutaneous reaction to sorafenib and a multikinase inhibitor
Sorafenib can cause a unique skin reaction.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research Abstract 10845: Spontaneous Coronary Artery Dissection as the Primary Presentation of Ana-Negative Lupus
SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Secondary amenorrhoea with absent axillary hair
The patient's long-term symptoms were due to Sheehan's syndrome, which improved with hormone therapy.
research 332 Generation of a gene expression signature for sebaceous glands by transcriptome comparison of psoriasis and sebaceous hyperplasia
Sebaceous gland atrophy and abnormal function may contribute to hair loss in psoriasis.
research DSG4 Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
Genetic testing can diagnose hair loss linked to DSG4 gene variants.
research Scorbut atypique associé à une anorexie mentale
A woman with anorexia improved significantly after being treated for scurvy with vitamin C, despite not showing typical scurvy symptoms.
research WHEN SILENCE TAKES OVER: A CASE OF CATATONIC SYNDROME REVEALING SYSTEMIC LUPUS ERYTHEMATOSUS
Catatonia can be a rare sign of lupus, needing careful diagnosis and treatment.
research Navigating Rhupus Complexity
Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
research P44 An acutely unwell and rare presentation of systemic lupus erythematosus; a case report
Early recognition and treatment of SLE can improve outcomes in patients with complex symptoms.
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 Symptoms of ASIA Syndrome in a Female Patient with Tattoos – A Case Report
Tattoos may trigger autoimmune symptoms in some people.
research A case of ophiasis type of alopecia areata in a patient with ring chromosome 18 syndrome
A patient with a rare chromosome condition also had a rare type of hair loss.
research Alopecia syphilitica diffusa
Treatment with benzylpenicillin and prednisolone cured the patient's syphilis and hair loss.