research Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up
Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
Search
for
Sort by
Research
300-330 / 1000+ resultsresearch Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene
A mouse gene mutation increases the risk of skin cancer.
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 Abordagens psicológicas e novas terapêuticas perante as escolhas do paciente portador da Síndrome de Morris
Patients with Complete Androgen Insensitivity Syndrome need psychological support and multidisciplinary care for complex treatment decisions.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research Investigation of Vaspin and Visfatin -4689G/T Gene Polymorphisms in Alopecia Areata Patients
The visfatin GT genotype may increase the risk of Alopecia Areata.
research A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research Viral-associated trichodysplasia spinulosa: a case with electron microscopic and molecular detection of the trichodysplasia spinulosa-associated human polyomavirus
A rare skin condition was confirmed to be associated with a specific virus in a young girl.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Carbon finance opportunities: There are excellent funding opportunities available to hydro developers in the new Carbon market
Nevus comedonicus can appear later in life and affect both eyelids.
research Epithelial cell migration on laminins
Collagen XVII and CD151 affect cell movement, with CD151 inhibiting migration when bound to integrins.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Tinea genitalis: a new entity of sexually transmitted infection? Case series and review of the literature
Sexual activity can spread T. interdigitale, needing quick antifungal treatment to avoid permanent scarring.
research Verrucous hemangioma leg: A challenging birthmark
A boy with a rare birthmark called verrucous hemangioma needed careful timing for surgery due to its size and depth.
research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17 : Report of 58 additional patients from Qatar and literature review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Management of pilonidal sinus disease with lyopreserved umbilical tissue allograft placement: a case series
Using lyopreserved umbilical tissue allograft may improve healing and reduce recurrence of pilonidal cysts.
research LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Reply
The document concludes that doctors should monitor children's brain development when treating hemangiomas with interferon alfa and consider stopping the treatment if problems arise, while also exploring drugs that might counteract side effects.
research https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/#
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research Association of insulin-like growth factor 2 Apa1 A820G gene (rs680) polymorphism with polycystic ovarian syndrome
A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
research Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne
Genetic variations affecting skin structure play a key role in severe acne.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
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 Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Persistent Milia, Steatocystoma multiplex and Eruptive Vellus Hair Cysts: Variable Expression of Multiple Pilosebaceous Cysts within an Affected Family
Milia, SM, and EVHC may be related conditions, not separate ones.
research Mutation of a type II keratin gene (K6a) in pachyonychia congenita
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.