research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
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research Inherited Hairlessness: A Case Study of Familial Congenital Atrichia
The document concludes that the girl's hairlessness is likely inherited from her parents.
research Lymphotoxin-β regulates periderm differentiation during embryonic skin development
Lymphotoxin-β is crucial for proper skin development in embryos.
research Hair Shaft Abnormalities. Pili Bifurcati: A Scanning Electron Microscopy Analysis
The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
research Follicular induction and CK20+ Merkel cells overlying cutaneous focal mucinosis
Some skin growths with mucin can form hair follicles and resemble skin cancer, but a special stain can help tell them apart.
research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
research Prominent follicular mucinosis with diffuse scalp alopecia resembling alopecia areata
A woman's hair loss, resembling an autoimmune condition, improved after treatment, but requires ongoing checks due to potential serious associations.
research A sharply marginated erythematous dermatitis in a toddler
A toddler with a rash and developmental delays improved after treatment for severe malnutrition caused by a diet lacking in protein.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research The Association of Diffuse Alopecia Areata and Psoriasis Vulgaris in a Young Child
A young child with alopecia areata and psoriasis improved with treatment, suggesting a link between the two conditions.
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 Clinical manifestations of alopecia in autoimmune blistering diseases: A cross-sectional study
Most patients with autoimmune blistering diseases experienced some hair loss, which may be underreported and linked to disease severity.
research BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
research Apoptosis and cutaneous biology
Apoptosis is crucial for healthy skin and treating skin diseases.
research Commonly associated disorders with complete scalp alopecia in early childhood: A review
Six genetic conditions are often linked to complete scalp hair loss in children.
research No mucosal involvement in a patient with paraneoplastic pemphigus associated with thymoma and myasthenia gravis
The patient had paraneoplastic pemphigus without mucosal involvement.
research Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
research A case of cutis verticis gyrata developing in a patient with primary scarring alopecia: A unique presentation of a rare disorder
A rare scalp condition, cutis verticis gyrata, was found in a woman with primary scarring alopecia.
research Secondary Cicatricial Scalp Alopecia Caused by Brunsting-Perry Pemphigoid: A Case Report
Brunsting-Perry pemphigoid can cause scarring hair loss and may be underdiagnosed.
research Ultrastructural abnormalities in the dermal papillae of both lesional and clinically normal follicles from alopecia areata scalps
Alopecia areata affects hair follicle structure, even in non-balding areas.
research Loss of epidermal PLCg1 induced sebaceous gland hyperplasia and sparse hair
Removing PLCg1 from skin cells caused thicker oil glands and less hair in mice.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Alopecia Mucinosa of the Face Associated With Mycosis Fungoides
Alopecia mucinosa on the face can be linked to mycosis fungoides, a type of lymphoma.
research Molecular pathology of skin adnexal tumours
New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
research Nevus Comedonicus (Blaschkoid Variant)
A 14-year-old boy has a skin condition called nevus comedonicus, treated with tretinoin cream.
research 575 Senescent atrophic epidermis retains Lrig1+ stem cells and loses Wnt signaling, a phenotype shared with CD44KO mice
research A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.