Retinoids are generally used in patients with harlequin ichthyosis
Keywords: Harlequin ichthyosis
, adenosine triphosphate binding cassette A12, autosomal recessive
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
With these findings clinically diagnosis of harlequin ichthyosis
is an autosomal recessive disease.
is a severe and usually lethal form of congenital ichthyosis, caused by a mutation in the ABCA12 gene.
It seems that the mutated ABCA 12 gene in harlequin ichthyosis
has something to do with the production of the lamellar granules in the upper layers of the skin.
LUCY and Hannah Betts and Dana and Lara Bowen are two sets of sisters with one of the rarest disorders in the world: a genetic skin condition called harlequin ichthyosis
Moving documentary profiling Lara Bowen and Hannah Betts (above) who suffer from the rare genetic skin disorder harlequin ichthyosis
Ellie Luther, who has Harlequin ichthyosis
, received top marks in SATs exams.
Five-year-old Ellie Luther, from South Shields, is one of just a handful of children with Harlequin ichthyosis
, a condition so extreme doctors have difficulty diagnosing it.
Lucy had been born with Harlequin Ichthyosis
, an extremely rare genetic skin condition that meant she was covered in thick plates of skin that caused deep cracks across her body and distorted her face and limbs.
Now aged just 32 she is the oldest person in the UK to have Harlequin Ichthyosis
, a condition which sees her skin grow at ten times the normal rate.