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.
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research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Dilated tonic pupils with tabes dorsalis in neurosyphilis as first manifestation of HIV/AIDS: a video report
Dilated pupils can be an early sign of HIV/AIDS.
research Intralesional Injection of Triamcinolone Acetonide, Methotrexate and Vitamin D in Treatment of Alopecia Areata: A Narrative Review
Methotrexate and vitamin D3 are potentially more effective and safer than triamcinolone for treating localized alopecia areata.
research Lentiginous melanoma. A clinically malignant entity that histopathologically seems benign. Case study harbouring BRAF V 600R mutation
A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
research Eyelid Pilomatrixomas: A Case Report and Comprehensive Literature Review
Eyelid pilomatrixomas are rare, benign tumors that need accurate diagnosis for proper treatment.
research A rare case of Vitamin D dependent rickets type II: a case report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research Actualización en el tratamiento de la tricotilomanía
Effective treatments for trichotillomania include cognitive-behavioral therapy, certain medications, and alternative support tools.
research Monilethrix: a typical case report with microscopic and dermatoscopic findings
A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.
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 Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report
Topical minoxidil and tretinoin improved hair growth in a girl with EDSS1 over two years.
research PRP versus intralesional triamcinolone for alopecia areata comparative study
PRP is more effective than triamcinolone for treating alopecia areata.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations
Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Hair-Bearing Flaps for Baldness
Flap surgery is effective for treating male baldness, offering immediate results with dense hair growth.
research Pengaruh Perbedaan Metode Pembuatan Ekstrak Alergenik Dari Debu Rumah Yang Mengandung Tungau Terhadap Potensinya Yang Dibuat Dengan Metode Diephuis Dan Metode Voorhorst
Further trials are needed to explore the efficacy of triamcinolone acetonide in dermatology.
research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research How effective is intralesional injection of triamcinolone acetonide compared with topical treatments in inducing and maintaining hair growth in patients with alopecia areata? A Critically Appraised Topic
Intralesional triamcinolone acetonide can regrow hair in alopecia areata but often has temporary effects and side effects.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Palmoplantar pustulosis–like eruption following tofacitinib therapy for juvenile idiopathic arthritis
Tofacitinib can cause skin eruptions similar to palmoplantar pustulosis.
research Vitiligo-like depigmentation with perifollicular pigment retention in systemic sclerosis treated successfully with suplatast tosilate
Suplatast tosilate successfully treated a woman's systemic sclerosis symptoms.
research Matriptase-2, A Novel Suppressor of Hepcidin.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
research Different Trichoscopic Features of Tinea Capitis and Alopecia Areata in Pediatric Patients
Trichoscopy can effectively tell apart tinea capitis and alopecia areata in children by looking for specific hair shapes.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research 559 Visualization of sweat suppression following botulinum toxin A by soluble microneedle arrays
Microneedle arrays deliver botulinum toxin effectively for sweat suppression, similar to injections.
research PROSPECTIVE CLINICAL STUDY TO ASSESS THE SAFETY AND EFFICACY OF DRAVANTI BEEJ LEPA (LOCAL APPLICATION OF CROTON TIGLIUM) IN INDRALUPTA W. S. R. TO ALOPECIA AREATA
Croton tiglium application significantly improved hair regrowth in alopecia areata patients.
research Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association?
The case suggests a possible link between severe acne and certain bone deformities.
research Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.