research An unusual case of Anasarca-Rapunzel syndrome
A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
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240-270 / 1000+ results research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Mucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study
Children with Turner Syndrome often have skin, hair, and nail issues linked to hormonal problems, so regular skin checks are recommended.
research Trichorrhexis Invaginata and Netherton’s Syndrome
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
Fragile hair in children is rarely linked to trichothiodystrophy (TTD).
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research [Trichothiodystrophy: a morphological and biochemical study].
Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
research Generalized trichorrhexis nodosa
The hair disorder was caused by abnormal protein formation, making hair easily damaged.
research Pruritic Trichostasis Spinulosa: A Rare Variant
A rare hair follicle disorder can cause itchy, bluish-black bumps on the body.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research A unique presentation of trichofolliculoma in amniotic band syndrome
Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Case of Cronkhite Canada Syndrome - A Non-Inherited Gastrointestinal Polyposis Syndrome
A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research Hair-Thread Tourniquet Syndrome; Emergent Diagnosable Condition
Hair-Thread Tourniquet Syndrome is a rare condition where hair or thread tightly wraps around a child's body part, requiring quick treatment to prevent damage.
research Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome
Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.