Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. [malacards.org]

The disease course was complicated in most cases by multiple episodes of sepsis and hypernatremic dehydration, as well as 1 instance of transient acute renal failure. clinical synopsis ...linical-synopsis] Clinical synopsis for omim 604777 [omim_resource [bio2rdf.org]

Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). [malacards.org]

Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}). [bio2rdf.org]

Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {14:Eckl et al., 2005}). [diseaseinfosearch.org]

Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005 ). [mendelian.co]

Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections. Belongs to the cytochrome P450 family. [mybiosource.com]

In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. [malacards.org]

Congenital malformation hsa02010 ABC transporters AB CA12 [HSA: 26154 ] [KO: K05646 ] H00734 Autosomal recessive congenital ichthyosis Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. [kegg.jp]

Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). [malacards.org]

Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}). [bio2rdf.org]

In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. [diseaseinfosearch.org]

Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005 ). [mendelian.co]

Diffuse desquamation and erythema of the scalp were also observed. [kundoc.com]

Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). [malacards.org]

Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}). [bio2rdf.org]

Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {14:Eckl et al., 2005}). [diseaseinfosearch.org]

Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005 ). [mendelian.co]

The affected individuals shared 2 compound core haplotypes, suggesting compound heterozygosity. {8:Virolainen et al. (2000)} stated that this was the first locus for a nonlamellar, nonerythrodermic form of ARCI. [bio2rdf.org]

Sample Preparation We suggest pre-experimenting with neat (undiluted) samples, 1:2 or 1:4 dilutions. Please avoid diluting your samples more than 1:10 as it would exceed the dilution limit set for this kit. [mybiosource.com]

Our observations suggest that vitamin D may be considered as an alternative therapy in younger children with congenital ichthyosis and vitamin D deficiency, especially in pigmented skin types. [pediatrics.aappublications.org]

A normal or slightly prominent granular layer and a mild dermal perivascular lymphocytic infiltrate with dilation of dermal capillaries were observed. {6:Lugassy et al. (2008)} reported a large consanguineous Israeli Druze family in which 4 affected individuals [bio2rdf.org]