research Clinical Manifestation and Classification of Japanese patients with Inherited Keratinizing Disorders
A simple classification based on symptoms helps diagnose and treat inherited skin disorders in Japan.
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900-930 / 1000+ results research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.
research X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab
Dupilumab effectively treats severe skin issues in a rare genetic disorder.
research Unilateral widespread lichen planus following Blaschko's lines afterMycoplasma pneumoniaeinfection
An 8-year-old girl developed a rare skin condition in a linear pattern on one side of her body after a lung infection, which improved with treatment.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Keratosis pilaris atrophicans faciei: An observational, descriptive, retrospective clinical study
Early diagnosis of Keratosis pilaris atrophicans faciei can lead to better, personalized treatments.
research Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: a Case Report
A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
research Nevus comedonicus
Nevus comedonicus is a rare skin condition with grouped open pores, sometimes linked to other body issues.
research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research Origin, Clinical Presentation, and Diagnosis of Facial Hypermelanoses
Facial dark spots can be caused by the sun, genetics, makeup, or medicine, and are diagnosed by patient history and skin tests.
research To study the prevalence of cutaneous manifestationsin newborns and its correlation with defined maternal and neonatal factors
Newborn skin conditions like Epstein pearls and Mongolian spots are common and influenced by race, environment, and hormones.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Heterogeneous disease: A child case of lichen planus pemphigoides triggered by varicella
A child's rare skin disease was triggered by chickenpox.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research A study on dermatoses of pregnancy
Recognizing and treating pregnancy-related skin conditions is important to reduce health risks for mothers and babies.
research Cutaneous Focal Mucinosis: A Case Report
A rare skin condition in children can look like other diseases.
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 Clinical cases of Darier-White follicular dyskeratosis
Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research An observational analysis of erythromelanosis follicularis faciei et colli
EFFC might be common but underreported.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research 017 Lichen Planus Colocalized with Vitiligo: Coincidence?
Some people with the skin color loss condition, vitiligo, also develop the skin inflammation condition, lichen planus, possibly due to local trauma, sun damage, or genetic factors.
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 Familial Occurrence of Eruptive Vellus Hair Cysts
Eruptive vellus hair cysts can run in families.