The authors reported a case of Netherton's syndrome. This patient presented cutaneous lesions of ichthyosis linearis circumflexa, tricorrexis invaginata and atopy signs associated with cystinuria. Cutaneous and hair lesions were treated with etretinate.

The pat ient was a female neonate bor n prematurely on 36 weeks of gestation by normal vaginal delivery. During pregnancy, mother had no history of fever, drug use or x-ray exposure. The mother was gravida 2 and had no history of abortion. Her first baby was well. On physical examination, the skin was markedly thickened, hard and hyperkeratotic with deep crevices running transversely and vertic...

AIM To describe the clinical phenotype in infants with ARC syndrome, the association of arthrogryposis, renal tubular acidosis, and cholestasis. METHODS The medical records for six patients with ARC syndrome were reviewed, presenting over 10 years to three paediatric referral centres. RESULTS All patients had the typical pattern of arthrogryposis. Renal Fanconi syndrome was present in all b...

Lamellar ichthyosis (LI), considered an autosomal recessive monogenic genodermatosis, has an incidence of approximately 1 in 250,000. Usually associated with mutations in the transglutaminase gene ( TGM1), mutations in six other genes have, less frequently, been shown to be causative. Two siblings, born in a collodion membrane, presented with fish like scales all over the body. Karyotyping reve...

Hyperkeratotic skin conditions in New World camelids include chronic mite infestation, zinc-responsive dermatosis, ichthyosis, and idiopathic necrolytic neutrophilic hyperkeratosis (INNH, also known as “munge”). Although these disorders are relatively uncommon, clinical signs may be severe and aesthetics may negatively impact the value of animals used for production. Hyperkeratotic lesions are ...

BACKGROUND Collodion phenotype is a term applied to the condition affecting a newborn involving a parchmentlike membrane covering the whole body surface (collodion membrane). This presentation is common to several different forms of autosomal recessive congenital ichthyoses, including nonbullous congenital ichthyosiform erythroderma (NCIE), lamellar ichthyosis (LI), and harlequin ichthyosis (HI...

A six year old female child with generalized hyperpigmented hyperkeratotic verrucous plaques with nail and dental abnormalities suggestive of ichthyosis hystrix type of epidermal nevus is being reported in view of the rarity of this condition.