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Research 30 of 227
- Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
- Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
- Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
- Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
- Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
- [Black piedra in South Africa. 1st description in a child with bamboo hair, pili torti and congenital erythroderma ichthyosiforme].
- Care of the newborn with ichthyosis
- Ichthyosis with confetti: clinics, molecular genetics and management
- A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
- [The Netherton syndrome with alopecia and prolinuria].
- Netherton Syndrome
- Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Trichoscopy in Unveiling the Triad of Netherton Syndrome
- Disorders of Keratinization
- KERATINS AND SKIN DISORDERS
- Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
- The keratins and their disorders
- Ichthyosis with confetti: a rare diagnosis and treatment plan
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
- Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
- Combination of Netherton Syndrome and Hypopituitarism with Isolated Somatotropin Deficiency: Case Study
- Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
- Erythroderma: clinical and etiological study of 88 cases seen in a tertiary hospital over 25 years
- A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
- Vulvovaginal involvement in Netherton syndrome: A case report
- Ichthyosis
- Improvement of Skin Lesions in an Adult with CHILD Syndrome Treated with 2% Ketoconazole Cream
- Sarcoidosis: Are there differences in your skin of color patients?