research Near-total penile amputation secondary to hair Torniquet syndrome – Case of a staged repair with a satisfactory outcome
Timely surgery successfully repaired a boy's penis after a hair caused severe damage.
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research MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Value of dermoscopy for the diagnosis of monilethrix
Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
research Junctional Epidermolysis Bullosa, Generalized Intermediate Type
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research A case report and brief literature review of Klippel-Trénaunay syndrome
The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
research Case Report: ACTH- and CRH-secreting pheochromocytoma as a very rare cause of ectopic Cushing syndrome
A rare tumor caused unusual hormone production leading to Cushing syndrome.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Pseudopili Annulati in a Dark‐Haired Individual: A Light and Electron Microscopic Study
A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
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 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 ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Toe Tourniquet Syndrome in Association With Maternal Hair Loss
Baby's toe injury linked to mom's hair loss; check baby's toes and be careful with fruit gel snacks.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research Hair thread tourniquet syndrome in a male infant: a rare surgical emergency
A baby boy's toe was saved from damage caused by hair strangulation by quick surgical treatment.
research Disorders of the skin appendages
The document concludes that proper recognition and treatment of skin appendage disorders are important for management.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.