research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
Search
for
Sort by
Research
600-630 / 1000+ resultsresearch A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Localization of intercellular adhesion molecule-1 in middle ear cholesteatoma
research Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
research Congenital localized basaloid follicular hamartoma: a case report and review of the literature
Accurate diagnosis of basaloid follicular hamartoma is crucial to avoid unnecessary treatments.
research Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique
PC-associated alopecia has unique microscopic features.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Lash Ptosis Caused by Latanoprost
Latanoprost can cause eyelash drooping as a side effect.
research Merkel cell differentiation in trichoblastoma
Trichoblastomas may mimic fetal skin development by having many Merkel cells, unlike adult skin.
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 Endoscopy-assisted craniosynostosis
Endoscopy-assisted surgery for craniosynostosis showed excellent outcomes with minimal complications and most patients went home the day after surgery.
research Cutaneous Corticosteroid Injection and Amaurosis
Smaller, diluted corticosteroid injections reduce the risk of vision loss.
research The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia
The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
research Anterior, frontal congenital triangular alopecia, redundancy in therapy without improvement
Recognizing congenital triangular alopecia is crucial to avoid unnecessary treatments.
research Pure Leydig cell tumor of the ovary: a rare presentation of a rare entity in a pregnant patient
A rare benign ovarian tumor was found in a pregnant woman, but both mother and baby remained healthy.
research Cutaneous Mastocytosis Associated With Congenital Alopecia
A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
research Alopecia Areata Ophiasic with Ciliary Madarosis in A Pediatric Patient: Case Report
A 10-year-old girl with hair and eyelash loss showed significant regrowth after treatment.
research Induction of meibocyte differentiation by three-dimensional, matrigel culture of immortalized human meibomian gland epithelial cells to form acinar organoids
research Hypopigmented facial lesions: a case of eruptive tumor of follicular infundibulum
Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
research Two Cases of Linear Alopecia on the Occipital Scalp
Two rare bald spots on the back of the scalp were found to be lupus, not alopecia areata.
research Vogt-Koyanagi-Harada Disease with Oral Manifestations: A Rare Case Report
VKHD can include rare oral symptoms like discolored teeth.
research Clinical and trichoscopic features of early congenital syphilis: a single-center cross-sectional study
Trichoscopy can help diagnose early congenital syphilis in newborns.
research Inverted Follicular Keratosis of the Lower Eyelid—A Diagnostic Conundrum
Inverted follicular keratosis on the eyelid can be cured with surgery and has a great prognosis.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research The impact of stigma on people with albinism in Africa: a narrative review
Stigma against people with albinism in Africa harms their health, education, and safety, and needs to be addressed with awareness and better healthcare.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research MON-080 Cushing Disease Secondary To Rathke’s Cleft Cyst
Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
research Barraquer–Simons syndrome with benign infundibulocystic proliferation
Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
research Multiple Concurrent Pilonidal Sinuses: Case report and Literature review
Multiple pilonidal sinuses can be successfully treated with a mix of surgery and conservative care.
research A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency
Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.