research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
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research Successfully Nonsurgical Epidermoid Cyst Management with Recombinant Hydrolytic Enzymes: A Case Report
Enzyme injections can effectively treat epidermoid cysts without surgery.
research Nevus comedonicus
Nevus comedonicus is a rare skin condition with grouped open pores, sometimes linked to other body issues.
research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Vellus hair cysts presenting as an atypical acneiform eruption
Vellus hair cysts can cause acne-like bumps that don't respond to treatment.
research An unusual case of Anasarca-Rapunzel syndrome
A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
research Generalized Asymptomatic Cutaneous Pits and Comedones in a Young Woman
The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
research Solitary Basaloid Follicular Hamartoma: A Report of Two Cases.
Basaloid follicular hamartoma is a rare, benign skin growth often misdiagnosed.
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 Linear trichoepithelioma on the neck of a 15-year-old girl
A 15-year-old girl has a benign skin tumor on her neck.
research Endoscopy-assisted craniosynostosis
Endoscopy-assisted surgery for craniosynostosis showed excellent outcomes with minimal complications and most patients went home the day after surgery.
research Morphological Features of External Genitalia in Hypospadiac Rat Model: 3-Dimensional Analysis
Hypospadiac rats showed abnormal genital development, useful for studying human hypospadias.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Cutaneous Granular Cell Tumor with Overlying Hypertrichosis in an Adult: A Rare Case Report
A rare skin tumor with extra hair growth was found and safely removed from a 27-year-old woman.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research An ovarian Leydig cell tumor of ultrasound negative in a postmenopausal woman with hirsutism and hyperandrogenism
A postmenopausal woman's hirsutism and high testosterone levels improved after surgery for an ovarian tumor not seen on ultrasound.
research Invasive giant pituitary macroadenoma causing Cushing disease; a case report
Giant pituitary macroadenomas causing Cushing disease are rare and may need extra treatment if surgery fails.
research Diagnostic pitfalls in ovarian androgen-secreting (Leydig cell) tumours: case series
Ovarian Leydig cell tumors are hard to diagnose with just advanced imaging; expert ultrasound and clinical evaluation are essential.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Solitary papule with central crater in a young man: Dermoscopy picks the clue
A young man's cheek papule was identified as a benign hair follicle tumor using a skin surface microscope.
research Recurrent inverse necrotizing infundibular crystalline folliculitis
Recurrent NICF is a rare skin condition with unclear causes, involving follicle inflammation and crystal deposits.
research Central precocious puberty secondary to peripheral precocious puberty due to a pineal germ cell tumor: a case and review of literature
A pineal tumor caused a boy's early puberty, which changed from peripheral to central after treatment.
research Periaortic venous necklace and renal right double arteries; Case report
The study found a unique vein pattern around the aorta and two arteries in the right kidney.
research Multimodal therapeutic approach for a severe case of kaposiform lymphangiomatosis from procedural interventions to targeted therapies
Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.
research Immunoperoxidase anti-keratin staining of epidermal and pilar cysts
Epidermal cysts come from the skin, while pilar cysts come from hair follicles.
research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research Secondary soft tissue revision surgery at skeletal maturity in patients with orofacial clefts
Additional surgeries are often needed to fix facial issues in patients with orofacial clefts.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.