research Generalized Asymptomatic Cutaneous Pits and Comedones in a Young Woman
The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
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research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research Granulomatous Microscopic Colitis Due to Allopurinol
Allopurinol may cause rare granulomatous microscopic colitis.
research Nonsynchronized segmented heterochromia in black scalp hair
A 14-year-old girl's black hair showed unique color changes, suggesting early greying.
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.
research Uncombable hair syndrome: A case presentation
Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
research Delayed granulomatous eruption of the nose associated with ruxolitinib
Ruxolitinib can cause a delayed skin reaction on the nose.
research Striking White Hair
Poliosis causes white hair patches due to lack of melanin.
research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
research Clinical and Hormonal Effects of Chronic Gonadotropin Releasing Hormone Agonist Treatment in Polycystic Ovarian Disease*
Chronic GnRHa treatment can help manage endometrial hyperplasia and reduce ovarian androgen excess in PCO patients.
research An unusual circulating steroid profile in a virilized postmenopausal woman
A 68-year-old woman developed male traits due to a tumor in her ovary, which was removed, returning her hormone levels to normal.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research A WWP2–PTEN–KLF5 signaling axis regulates odontoblast differentiation and dentinogenesis in mice
WWP2 is crucial for tooth development in mice.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research Disseminated Nonsegmental Vitiligo Associated With Halo Nevi and Premature Gray Hair
A rare combination of halo nevi, nonsegmental vitiligo, and early gray hair can occur together.
research The first case report of kerion-type scalp mycosis caused by Aspergillus protuberus
A rare fungal infection on a child's scalp was successfully treated with antifungal medication.
research Surgery of Kerion, a Nightmare for Nondermatologists
Misdiagnosing kerion as a bacterial infection can lead to unnecessary surgery and permanent hair loss.
research JAAD Grand Rounds quiz∗
The document explains the diagnosis and characteristics of woolly hair nevus and alopecia neoplastica.
research Renbök phenomenon: Alopecia areata sparing psoriasis plaques
Alopecia areata does not affect areas with psoriasis plaques.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Ovarian Stromal Hyperthecosis and Hyperandrogenemia Refractory to Hormonal Suppression
Removing both ovaries may better treat increased male hormone levels and related symptoms in postmenopausal women when hormone therapy doesn't work.
research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
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 Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.