research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
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180-210 / 1000+ resultsresearch Trans glutaminase-mediated cross-linking in mammalian epidermis
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 A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Generalised Gingival Fibromatosis and Hypertrichosis: A Rare Case of Syndromic Presentation
A 16-year-old girl with gum overgrowth and excessive hair growth had successful gum surgery and healed well.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
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 Pilomatricoma in the infraorbital region
Pilomatricoma is a rare, benign skin tumor that requires surgical removal for best results.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Vogt-Koyanagi-Harada Disease: A Narrative Review
Vogt-Koyanagi-Harada disease affects vision and skin, mainly in people with darker skin, and is treated with steroids and immunosuppressants.
research Four Closure
Certain astrocytes can protect the brain and improve recovery after a stroke, and a hair loss drug might reduce cancer spread.
research Morbihan disease and extrafacial lupus miliaris disseminatus faceie: a case report
A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research Normolipemic xanthoma associated with folliculotropic mycosis fungoides
A man with a type of skin lymphoma had unusual yellowish skin growths despite normal blood lipid levels, and treatment reduced some symptoms but not the growths.
research Induction of Vascular Endothelial Growth Factor Messenger Ribonucleic Acid Expression in Stored Micrografts by Aminoguanidine
Aminoguanidine increases VEGF in stored hair micrografts, potentially improving their viability after transplant.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research DP18 A mimicker of melanoma on sun-exposed sites
Melanocytic matricoma can look like skin cancer but is usually harmless; surgery and follow-up are advised.
research Multiple perifollicular fibromas: report of a case and analysis of the literature
Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.
research Endothelial NMMHC IIA dissociation from PAR1 activates the CREB3/ARF4 signaling in thrombin-mediated intracerebral hemorrhage
Targeting NMMHC IIA may help treat blood-brain barrier damage.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research 42761 The elusive BAP1 mutation in pediatric melanocytic tumors
BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
research PC038: A rare case of strawberry gingivitis associated with Granulomatosis with polyangiitis - GPA (Wegener granulomatosis)
A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.
research Folliculotropic CD8+ mycosis fungoides associated with diffuse mucosal involvement
A rare type of skin cancer with mucosal involvement was partially treated but eventually relapsed.
research Congenital Combined Melanocytic Nevus of the Scalp With Associated Alopecia Areata
A man with a birthmark on his scalp developed hair loss that improved with treatment, but the link between the birthmark and hair loss was unclear.
research Isolated episcleral plasmacytoma mimicking episcleritis in a patient with benign monoclonal gammopathy
An isolated episcleral plasmacytoma can mimic episcleritis, making diagnosis challenging.
research Primary Essential Cutis Verticis Gyrata: A Case Report with a Review of Literature
Primary essential CVG is a rare, benign scalp condition with treatment focusing on symptom management and hygiene.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research Two parietal cephaloceles in a female neonate
A baby girl had two brain-related growths removed and is developing normally.