research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
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research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research Vulvovaginal involvement in Netherton syndrome: A case report
Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
research Psychiatric morbidity in children and adolescents with dermatological disorders
Kids with skin problems are more likely to have mental health issues.
research Generalized trichorrhexis nodosa
The hair disorder was caused by abnormal protein formation, making hair easily damaged.
research Cutaneous Manifestations of Eating Disorders
Eating disorders can cause skin problems that need treating the underlying condition for better health.
research Adverse cutaneous effects of psychotropic medications
Psychotropic medications can cause skin problems, including serious conditions, and patients should be monitored closely.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
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 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 Knismesis: the aversive facet of tickle
Light tickling can be unpleasant and may feel worse for individuals with autism.
research Trichorrhexis nodosa. Clinical and investigative studies
Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Plica neuropathica: Bird's nest under dermatoscope
Plica neuropathica is a tangled hair condition that may be caused by hair damage or psychiatric issues and is treated by cutting the hair and addressing mental health.
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Onychomadesis associated with childhood hand-foot-mouth disease
Hand-foot-mouth disease may cause nail loss in children.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Cutaneous Signs of Malnutrition Secondary to Eating Disorders
Eating disorders can cause skin problems, which may help with early diagnosis and treatment.
research Recurrent pruritic polymorphic lesions associated with weight loss
A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
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 A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Hair shaft disorders
Hair shaft disorders often indicate genetic or systemic issues and are managed by minimizing damage.
research Anticonvulsant-Induced Cutaneous Reactions
Some anticonvulsant drugs can cause skin reactions, ranging from mild to severe, and managing these reactions is important for patient care.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Sensitive Scalp and Trichodynia: Epidemiology, Etiopathogenesis, Diagnosis, and Management
Sensitive scalp causes discomfort and may relate to hair loss, with treatment focusing on scalp care and medication.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.