The ABCA12 gene encodes an ATP-binding cassette transporter vital to skin barrier function. In keratinocytes, transports ceramides into the lumen of lamellar bodies as part widely conserved water system. Alterations in are associated with autosomal recessive congenital ichthyoses: harlequin ichthyosis, non-bullous ichthyosiform erythroderma, and ichthyosis. We report a 4-month-old female who pr...

Ichthyoses are a heterogeneous group of cutaneous keratinization disorders that can be congenital or acquired. Apart from neoplastic disorders, the acquired form of ichthyosis (AI) has been associated with a variety of diseases including infections, autoimmune/inflammatory and endocrine/metabolic diseases as well as nutritional conditions, medications and others. However, malignancy accounts fo...

Arthrogryposis-renal tubular dysfunction-cholestasis syndrome is a rare multisystem disorder, originally described in 1973 and to date only 62 patients have been reported. Herein, we reported on a neonate with arthrogryposis-renal tubular dysfunction-cholestasis syndrome presenting very early after birth. Recurrent febrile illnesses, failure to thrive, ichthyosis, hypothyroidism, and bilateral ...

We describe a unique presentation of cervical verrucous carcinoma (VC) associated with ichthyosis the uterine cavity in an 80-year old woman. Areas transition from giant condyloma (GC) were present VC. This paper also includes review relevant literature. VC cervix is uncommon malignancy, and GC to interesting finding, confuting theory that they represent distinct entities, different risk factor...

Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Harlequin ichthyosis (HI) is marked by severe keratinized and alligator-like horned skin. The present study reports a new case with ...