Arthrogryposis-renal tubular dysfunction-cholestasis syndrome (MIM No. 208085) is a rare multisystem disorder involving the liver, kidney, skin, and central nervous and musculoskeletal systems. The syndrome is an autosomal-recessive trait, associated with germ-line mutations in the VPS33B gene. We report an Iranian boy of consanguineous cousin parents who had congenital deformities of the upper...

1. Hernández-Martín A, Garcia-Doval I, Aranegui B, de Unamuno P, Rodríguez-Pazos L, González-Enseñat MA, et al. Prevalence of autosomal recessive congenital ichthyosis: A population-based study using the capture-recapture method in Spain. J Am Acad Dermatol. 2012;67:240--4. 2. Hernández-Martin A, de Lucas R, Vicente A, Baselga E, Morcillo-Makow E, Arroyo Manzanal MI. Reference centers for epide...

M ost statistics on the incidence of hereditary ichthyosis are acknowledged as best-guess estimates. The exceptions are population-based studies for the prevalence of steroid sulfatase deficiency (xlinked ichthyosis) and mutations in filaggrin (ichthyosis vulgaris). We wondered whether the unique International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) code for...

Severe congenital skin abnormalities are a rare event. This case is unique in that it is a case of harlequin ichthyosis in sub-sahara Africa in a child of African origin and elaborates the challenges faced in its management. We present a neonate who was managed for this condition at Chogoria Mission Hospital. In presenting this case, we aim to sensitise healthcare providers to promptly recognis...

This paper describes a neonate with type II Gaucher disease. The phenotype was unusually severe with congenital ichthyosis, hepatosplenomegaly, muscular hypotonia, myoclonus and respiratory failure. Electron microscopy of the skin revealed lamellar body contents in the stratum corneum interstices, appearances considered to be typical of type II Gaucher disease. The baby died from respiratory fa...

have been recorded. The boy was quite well up to about four months ago, when his mother noticed some spots about his neck, which had since extended from above downwards, following the course of the cutaneous spinal nerves. In the cases previously recorded the spots were observed on only one side of the body. In this instance they appeared on both sides. The groups of papillae approached in char...

Importance Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, relationship between genotype and phenotype is complex. Objective To analyze clinical manifestations gene Chinese patients with KPI. Methods Clinical data were collected 13 children diagnosed peripheral blood DNA sam...

Inherited ichthyoses represent a large heterogeneous group of skin disorders characterised by impaired epidermal barrier function and disturbed cornification. Current knowledge about disease mechanisms has been uncovered mainly through the use mouse models or human organotypic models. However, most lines suffer from severe defects causing neonatal death keratinocytes have very limited prolifera...

This case report describes congenital ichthyosis in a Maltese dog, condition, which has not previously been reported this breed. The dog presented with several dry, tightly adhering scales showing multi-focal appearance. histology revealed severe orthokeratotic hyperkeratosis and hyperplasia an irregular granular layer without epidermolysis. Non-epidermolytic (NI) strong breed predilection dogs...

Sir, Chanarin‐Dorfman syndrome (CDS) is a rare inherited disorder characterized by congenital ichthyosis, nonbullous ichthyosiform erythroderma, myopathy, and hepatic involvement with deposition of neutral lipids in skin, muscle, liver, central nervous system, and granulocytes. Variable skin and systemic involvement makes diagnosis difficult in some cases wherein an easy screening tool in the f...