research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
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540-570 / 1000+ resultsresearch Steroid Responsive Mononeuritis Multiplex in the Cronkhite–Canada Syndrome
Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
research Trichothiodystrophy
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Clinical report of a Holstein's calf with ichthyosis.
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
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 Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart
Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research Anterior neck fat deposition in lipodystrophy syndrome; a new variant on a theme?
A new form of lipodystrophy in HIV patients causes neck fat buildup.
research Black Hairy Tongue After Allogeneic Stem Cell Transplantation: An Unrecognized Cutaneous Presentation of Graft-Versus-Host Disease
Black hairy tongue can be an early sign of graft-versus-host disease after stem cell transplants.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research The keratoacanthoma: A review
Keratoacanthoma is a common, usually non-dangerous skin tumor that looks like squamous cell carcinoma but rarely becomes severe.
research Functional histopathology of keloid disease.
Keloid scars are aggressive, excessive skin scars with unique features and complex diagnosis.
research MON-080 Cushing Disease Secondary To Rathke’s Cleft Cyst
Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
research Inverted Follicular Keratosis of the Lower Eyelid—A Diagnostic Conundrum
Inverted follicular keratosis on the eyelid can be cured with surgery and has a great prognosis.
research Directed Expression of a Chimeric Type II Keratin Partially Rescues Keratin 5-null Mice
A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Diffuse hypotrichosis from early childhood
The girl has a genetic hair condition causing thin hair since childhood.
research The Use of Human Dermal Papillae Conditioned Medium (HDPCM) on Aplasia Cutis Congenita in Lower Extremity due to Intrauterine Varicella Infection
HDPCM treatment healed a baby's congenital skin defect caused by varicella infection.
research Lipodermatosclerosis: a postphiebitic syndrome
The patient has a leg condition caused by vein issues, needing lifestyle changes and leg care.
research Hair-thread tourniquet syndrome of labia: A case report
Removing hair wrapped around the labia quickly prevents serious tissue damage.
research Beyond the usual: a case of acrodermatitis enteropathica clinically resembling erythrokeratoderma variabilis
Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
research Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.