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.
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research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research Spangled hair in siblings
Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
research Graham-Little Piccardi Lassueur Syndrome and review of the literature
Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Sparse hair in a female toddler
Iron supplements may reverse premature graying in iron-deficient individuals; ingrown nails are common in diabetics with certain risk factors; topical finasteride may reduce scalp DHT as effectively as oral finasteride; monilethrix treatment is challenging but some medications can help.
research Glabellar clinical and trichoscopic findings in patients with frontal fibrosing alopecia
Frontal fibrosing alopecia can be diagnosed by examining facial areas and treated with specific medications to stop its progression.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research The Identity of Flavin with the Cataract-Preventive Factor
Flavin prevents cataracts in young rats.
research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research Association of fibrosis in the bulge portion with hair follicle miniaturization in androgenetic alopecia
Fibrosis in the bulge area of hair follicles can cause hair thinning in male pattern baldness, and drugs that inhibit fibrosis might help reverse this.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Perifollicular Fibrosis in Androgenetic Alopecia
Perifollicular fibrosis hinders hair regrowth in androgenetic alopecia, and new treatments targeting fibrosis are needed.
research CONGENITAL ATRICHIA.*
Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
research Serum Ferritin Levels amongst Individuals with Androgenetic Alopecia in Ile-Ife, Nigeria.
People with early onset hair loss (Androgenetic Alopecia) in Ile-Ife, Nigeria, have significantly lower iron levels compared to those with adult-onset hair loss.
research Graham-Little-Piccardi-Lassueur Syndrome: Two Case Reports and Review of the Literature
The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.
research Folliculocentric papules and alopecia
A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Diffuse congenital hypotrichosis simplex with associated hair shaft fragility
The document's conclusion cannot be provided because the document is not available or cannot be understood.
research Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: A case report and personal considerations
A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
research 34006 Vitamin D deficiency in patients with lichen planopilaris/frontal fibrosing alopecia
Patients with lichen planopilaris/frontal fibrosing alopecia have a higher rate of vitamin D deficiency than the general US population.
research Pili Annulati
The patient's hair has unique structural differences with alternating bright and dark bands.
research PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus
RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
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.
research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.