OMIM® :
57
Autosomal dominant lamellar ichthyosis (ADLI) is characterized by onset at birth or in the early neonatal period. Patients have large dark scales over the entire body, which are more prominent on the extremities, and palmoplantar keratoderma is present. Some patients experience mild erythema and/or moderate itching. Absence of sweating in severely affected areas has been reported (Boyden et al., 2020).
Traupe et al. (1984) reported a large family of German descent (East Prussia) in which 5 individuals over 3 generations exhibited congenital lamellar ichthyosis that was evident at birth. The 8-year-old proband, her 27-year-old mother, and 52-year-old maternal grandfather exhibited large dark-brown scales over most of the body, including the palms and soles, with relative sparing of the face, anterior chest, and abdomen. The hyperkeratotic skin appeared lichenified on the back of the hands and feet as well as on the wrists, knees, and ankles. There was no history of erythema or blistering. The proband's teeth showed severe caries, but hair was normal. Her 13-month-old brother showed large translucent scales over the entire body, with relative sparing of the diaper area, especially the buttocks. He had 2 circumscribed erythematous patches on his legs, and experienced severe itching. The mother's deceased sister was also reported to have been affected. Histopathologic analysis of severely affected skin from the proband and her mother showed both orthokeratosis and parakeratosis, associated with a marked increase in the granular layer. The authors designated the disorder 'autosomal dominant lamellar ichthyosis (ADLI).'
Kolde et al. (1985) described the ultrastructural characteristics of affected skin from the mother and daughter originally reported by Traupe et al. (1984). There were slightly enlarged nuclei that sometimes showed prominent nucleoli, an increased number of mitochondria, and numerous free ribosomes in the cells of the malpighian layer. The widened granular layer also contained numerous mitochondria, and nucleated keratinocytes were found even in the uppermost transforming keratinocytes. Kolde et al. (1985) noted that in contrast to other ichthyoses, there was a prominent transformation zone between the stratum granulosum and corneum, consisting of up to 6 cell layers that reflected the structural and biochemical conversion of fully developed granular cells into horny cells. The authors suggested that ADLI might serve as a model for the study of cornification in humans.
Williams and Elias (1986) concurred that the family described by Traupe et al. (1984) with affected members in 3 generations had an autosomal dominant form of 'lamellar' ichthyosis and mentioned a similar family of their own.
Larregue et al. (1986) briefly described one 3-generation family and five 2-generation families with lamellar ichthyosis. The disorder was severe in these families and was accompanied by a collodion membrane at birth. Melnik et al. (1989) concluded that the pattern of lipids in the scales, as demonstrated by sequential high-performance thin-layer chromatography, differs from that of the erythrodermic and nonerythrodermic variants of autosomal recessive lamellar ichthyosis.
Boyden et al. (2020) studied 13 patients in 4 families segregating autosomal dominant lamellar ichthyosis and mutations in the ASPRV1 gene, including the 3-generation German family (kindred 630) originally reported by Traupe et al. (1984). The affected individuals exhibited a consistent phenotype, with all presenting at birth or within the first months of life with scaling involving the entire body, including the flexures, palms, and soles. None had collodion membrane. Scales were large and plate-like, and most prominent on the arms and legs. Erythema was absent or mild. Scaling improved, but did not completely resolve, during warmer weather. Affected individuals reported an inability to perspire when scaling was severe. Palmoplantar keratoderma was present, with prominent scaling and accentuation of creases. Some patients reported moderate itch. Histology showed acanthosis, compact orthohyperkeratosis, and a slightly expanded granular layer.
(146750) (Updated 05-Mar-2021)
MalaCards based summary :
Ichthyosis, Lamellar, Autosomal Dominant, also known as
lamellar ichthyosis, autosomal dominant, is related to
autosomal recessive congenital ichthyosis and
ichthyosis. An important gene associated with Ichthyosis, Lamellar, Autosomal Dominant is
ASPRV1 (Aspartic Peptidase Retroviral Like 1). Affiliated tissues include
skin, and related phenotypes are
hyperkeratosis and
pruritus
KEGG :
36
Autosomal dominant lamellar ichthyosis (ADLI) is a skin disorder caused by mutations in ASPRV1. Clinical and histologic features are similar to those of autosomal-recessive lamellar ichthyosis [DS:H00734]. ASPRV1 encodes a mammalian-specific and stratified epithelia-specific protease important in processing of filaggrin, a critical component of the uppermost epidermal layer.
