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.
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750-780 / 1000+ resultsresearch [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research Hepatitis C ‐related mixed type vitiligo in a patient with I vemark syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research Primary High‐Grade Ovarian Sertoli–Leydig Cell Tumor With Bilateral Adnexal Involvement in a Patient Diagnosed With Peutz–Jeghers Syndrome
Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
research Pseudopelade of Brocq: a clinico-therapeutic challenge!
Pseudopelade of Brocq is hard to diagnose and treat, with limited effective options.
research Trichoscopic findings of discoid lupus erythematosus alopecia: A cross-sectional study
Shiny white structures in trichoscopy can indicate long-standing discoid lupus erythematosus alopecia.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Scalp whorls
Abnormal scalp whorls can indicate brain development issues but may also be seen in neurologically normal people.
research Coexistence of giant blue nevus of the scalp with hair loss and alopecia areata
A giant blue nevus on the scalp can cause hair loss and may damage underlying structures.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
research Reversible alopecia in Vogt-Koyanagi-Harada disease and sympathetic ophthalmia
Alopecia can be reversed with timely steroid treatment in VKH and SO diseases.
research Three-dimensional microvascular organization around hair follicles as revealed by FITC-dextran injection method
research Study of normal hair and of some malformations with a scanning electron microscope
Hair malformations may occur due to timing issues in hair development.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Congenital triangular alopecia: Is it always confined to fronto-temporal region?
Congenital triangular alopecia can occur outside the typical fronto-temporal region.
research Hyaluronate Accumulation and Decreased CD44 Expression in Perifollicular Solitary Cutaneous Myxoma
Reduced CD44 expression may cause abnormal hyaluronate buildup in cutaneous myxoma.
research Trichostasis spinulosa of the scalp mimicking Alopecia Areata black dots
A man's scalp condition was misidentified as hair loss dots but was actually a common follicular disorder.
research Ovarian Hyperthecosis Presenting as Polycythemia
research BH16 Central centrifugal cicatricial alopecia and fibroproliferative disorders: exploring the association with uterine leiomyomas
Black women with CCCA are more likely to have uterine fibroids.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Bilateral morphea en coup de sabre: a rare presentationof linear morphea
A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.
research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
research Outer root sheath (ORS) cells organize into epidermoid cyst-like spheroids when cultured inside Matrigel: a light-microscopic and immunohistological comparison between human ORS cells and interfollicular keratinocytes
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
research Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
research Management of Adult Facial Vascular Anomalies
Treat adult facial vascular anomalies with lasers, surgery, or observation, depending on the patient's specific condition.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
research Connexin 30, a new marker of hyperproliferative epidermis
Connexin 30 is usually absent in normal skin but can appear in certain skin conditions.