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Case of Epidermolytic Ichthyosis with a Novel L157P Mutation in KRT10 Complicated by Hypercalcemia

research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia

October 2011 in “Journal of dermatology”

A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

research Surgical approach of ectropion in lamellar ichthyosis

February 2010 in “Journal of The American Academy of Dermatology”

Surgery on a baby with a skin disorder improved eyelid position and eye health.

research Acquired ichthyosis, alopecia and loss of hair pigment associated with leiomyosarcoma

March 1998 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”

Removing a tumor may resolve associated skin and hair symptoms.

research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

23 citations , December 2013 in “British Journal of Dermatology”

A new gene mutation linked to a skin condition was found in a Spanish family.

research Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis

16 citations , January 2000 in “Dermatology”

Men with X-linked recessive ichthyosis can still experience male-pattern baldness.

A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family

9 citations , March 2018 in “European journal of dermatology/EJD. European journal of dermatology”

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

research Absence of Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis?

9 citations , January 1999 in “Dermatology”

Men with X-linked recessive ichthyosis may not experience typical male-pattern baldness.

research Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis

8 citations , September 1987 in “Acta Dermato Venereologica”

Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.

research NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy

7 citations , February 2019 in “Veterinary medicine and science”

An American Bully with a genetic skin condition improved significantly with specific topical treatments.

Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature

research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature

7 citations , March 2012 in “European Journal of Pediatrics”

A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.

research Male-Pattern Baldness Is Common in Men with X-Linked Recessive Ichthyosis

6 citations , January 2003 in “Dermatology”

Men with X-linked recessive ichthyosis often experience male-pattern baldness.

research Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study

5 citations , May 2018 in “Veterinary dermatology”

Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.

research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis

3 citations , September 2016 in “Pediatric Dermatology”

Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.

research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis

1 citations , December 2016 in “Revista română de medicină de laborator”

The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.

research 152 Alopecia patterns in patients with autosomal receesive congenital ichthyosis

November 2024 in “Journal of Investigative Dermatology”

Hair evaluation is crucial for early diagnosis and management of ARCI, as hair loss often indicates severity.

research Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis

August 2024 in “International Journal of Women’s Dermatology”

Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.

research Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis

3 citations , August 2024 in “Dermatology and Therapy”

Gene and cell therapies are being developed to treat rare skin conditions like epidermolysis bullosa and ichthyosis.

research Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases

1 citations , December 2020 in “Acta dermato-venereologica”

Some scalp sores are linked to different inherited skin conditions.

research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome

April 2017 in “Journal of Investigative Dermatology”

Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.

research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings

124 citations , January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.