research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
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research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Congenital and Hereditary Skin Diseases
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
research Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey
Recognizing unusual skin, eye, or hair issues can help diagnose immune system disorders early, especially in children.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis
Men with X-linked recessive ichthyosis can still experience male-pattern baldness.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Erythema Multiforme Like Lesions in a Case of Systemic Lupus Erythematosus
Erythema multiforme-like lesions can occur in lupus without drug use or herpes infection.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research A Case of Acrodermatitis Enteropathica
Acrodermatitis Enteropathica is a rare skin condition treated effectively with zinc supplements, and early diagnosis is key.
research Surgical approach of ectropion in lamellar ichthyosis
Surgery on a baby with a skin disorder improved eyelid position and eye health.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Harlequin fetus with abnormal lamellar granules and giant mitochondria
Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
research Fox-Fordyce Disease
The patient had a severe itchy rash and hair loss in the armpits.
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 A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Recognizing ophiasis pattern in discoid lupus: a rare diagnostic challenge
Dermatologists should recognize diverse discoid lupus signs to avoid misdiagnosis.
research P44 The presentation of systemic erythematous lupus with Kikuchi-Fujimoto disease
A woman with lupus and Kikuchi-Fujimoto disease improved with treatment.
research Acquired ichthyosis, alopecia and loss of hair pigment associated with leiomyosarcoma
Removing a tumor may resolve associated skin and hair symptoms.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Acrodermatitis Enteropathica
Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
research CHICAGO DERMATOLOGICAL SOCIETY
The woman's skin condition persisted for 20 years despite treatments.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Dermatological findings in common rheumatologic diseases in children
Children with different rheumatologic diseases have specific skin symptoms that can help with diagnosis.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib
Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.