research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
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450-480 / 1000+ resultsresearch VITILIGO: WHAT’S OLD, WHAT’S NEW?
Vitiligo treatments are improving but relapses are common.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Linear immunoglobulin A/immunoglobulin G bullous dermatosis associated with Vogt-Koyanagi-Harada disease
A man had two rare autoimmune diseases that might be connected.
research Diffuse hypotrichosis from early childhood
The girl has a genetic hair condition causing thin hair since childhood.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Co-occurrence of Progressive Hemifacial atrophy due to Morphea with homolateral segmental Vitiligo: a case report
A 20-year-old woman had stable Progressive Hemifacial Atrophy and Vitiligo after treatment, suggesting a possible link between the conditions.
research 1233 Exploring the role of melanocyte subpopulations in vitiligo
A specific group of early-stage melanocytes is reduced in vitiligo-affected skin, which may explain treatment resistance.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
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 Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
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.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
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 Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Overnight loss of pigmented hair in autoimmune autonomic neuropathy treated with IVIg
IVIg treatment improved symptoms but caused permanent dark hair loss.
research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research Granuloma Annulare Mimicking Alopecia Mucinosa in a Child: An Atypical Presentation
Biopsy is crucial to correctly diagnose granuloma annulare, which can mimic other conditions like alopecia mucinosa.
research Subclinical speckled perifollicular melanosis of the scalp.
The scalp has a natural speckled pattern of increased pigment around hair follicles, possibly linked to local hormone production.
research Field melanin mapping of the hairless scalp
The study found a specific pattern of uneven melanin distribution on balding scalps that could help understand skin diseases caused by light exposure.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia
A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research PA32 Severe lichen planus with co-localization of vitiligo: a rare and unusual case
A 13-year-old boy had both lichen planus and vitiligo, suggesting a possible link between the two conditions.