research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
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150-180 / 1000+ resultsresearch Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Inflammatory Tinea Capitis: Non-healing Plaque on the Occiput of a 4-year-old Child
Tinea capitis can cause scalp issues in children and should be considered in similar cases; treatment with griseofulvin and selenium sulfide is effective.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
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 Oligosecretory multiple myeloma: Unusual presentation of a rare clinical disease
A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Surgery of Kerion, a Nightmare for Nondermatologists
Misdiagnosing kerion as a bacterial infection can lead to unnecessary surgery and permanent hair loss.
research Alopecia secondary to repaired occipital encephalocele - role of tissue expander in hair restoration.
Hair loss due to a repaired brain bulge was successfully treated using a tissue expansion technique.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research A Case of Kerion Celsi Caused by Microsporum gypseum (Arthroderma gypseum ) in a Child
A 10-year-old boy recovered from a scalp infection caused by a fungus after treatment with itraconazole.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research OBRAŻENIA CZĘŚCI TWARZOWEJ CZASZKI W MATERIALE KLINIKI CHIRURGII CZASZKOWO-SZCZĘKOWO-TWARZOWEJ SUM W KATOWICACH
Interdisciplinary treatment is crucial for effective recovery from facial skull injuries.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Hair in the Wrong Place
A rare ear-area hair cyst was successfully removed from a 10-year-old boy.
research Massive Pilomatrixoma of the Scalp: A Case Report
A large scalp tumor was removed from an elderly woman, who was later diagnosed with schizophrenia.
research The first case report of kerion-type scalp mycosis caused by Aspergillus protuberus
A rare fungal infection on a child's scalp was successfully treated with antifungal medication.
research Salvage of postcranioplasty implant exposure using free tissue transfer
Free tissue transfer is highly effective for fixing exposed implants after skull surgery.
research Congenital atrichia associated with situs inversus and mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research Scalp and calvarial reconstruction
The conclusion is that closing scalp wounds is possible, but restoring hair without donor material is still a major challenge.
research An algorithmic approach to scalp reconstructive surgery: maximization of cosmetic and functional outcomes
The approach improves scalp surgery results by tailoring techniques to defect size and location.
research Challenges in diagnosis and treatment of Cushing disease in a 12-year-old boy
The boy's Cushing's Disease was treated successfully, but he developed growth hormone deficiency.
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 Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
research Idiopathic hypoparathyroidism with extensive intracranial calcification in children
An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.