research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
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research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research An Approach to the Patient with Hirsutism
The document concludes with guidance for doctors on diagnosing and treating hirsutism effectively and safely.
research Finasteride-Induced Pseudoporphyria
Finasteride caused blisters on hands and feet.
research Reply
Dr. Rasmussen disagrees with Alexander and Schor, emphasizing uncertainty in genital wart transmission and advocating for discussions on potential abuse and referrals in such cases.
research Stepwise Surgical Treatment of Gnathophyma
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Monilethrix
A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Symptomatic zinc deficiency in a full-term breast-fed infant
Zinc supplements and weaning cured a breast-fed baby's zinc deficiency caused by a gene mutation.
research Ocular Injury After Laser Hair Reduction Treatment to the Eyebrow
Laser hair reduction near the eyebrows can cause serious eye injuries even with safety measures.
research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
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 Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Epidermal Choristoma of the Oral Cavity: Report of 2 Cases of an Extremely Rare Entity
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Unilateral Straight Hair—A Symptom of Acquired Horner's Syndrome in a Neonate
A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
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 A Clinical Approach to Severe Insulin Resistance
Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.