Other DSP mutations do not cause erythrokeratoderma.
The finding led the researchers to conclude that clustered DSP mutations cause a novel cutaneous phenotype with erythrokeratoderma and progressive cardiomyopathy.
Classification of the causes of limbal stem cell deficiency Primary LSCD Secondary LSCD Aniridia Traumatic Congenital erythrokeratoderma
Chemical burns Xeroderma pigmentosum Thermal burns Peters' anomaly Acquired Brown syndrome Cicatricial ocular surface diseases Keratitis-ichthyosis-deafness syndrome Vernal keratoconjunctivitis Ultraviolet exposure Ionizing radiation Surgeries in the limbic region Contact lens use Preservative toxicity Aging Iatrogenic Cryotherapy Chemotherapeutic agents Infection Viral Bacterial Parasitic Oncologic Ocular surface tumors Table 2.
variabilis is reported to worsen during pregnancy.
Chanarin-Dorfman syndrome mostly present as congenital ichthyosiform erythroderma but can also manifest as lamellar ichthyosis and erythrokeratoderma variabilis like picture.
Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman Syndrome.
Abstract Progressive symmetrical erythrokeratoderma is an uncommon genodermatosis and is thought to arise due to mutations in the connexin gene.
Key words Short height, loricrin, progressive symmetrical erythrokeratoderma
The most frequent clinical features were neurosensory deafness 90%, erythrokeratoderma
89%, vascularising keratitis 79%, alopecia 79%, and reticulated hyperkeratosis of the palms and soles 41%.
is a heterogeneous group of inherited cornification disorders which presents with erythematous hyperkeratotic plaques which are either migratory or stationary.
Richard G, Rinpfeil F: Ichthyosis, erythrokeratodermas
and related disoerders.
At the same time, cases with normal skin or xerosis are suggestive of X-linked ichthyosis, ichthyosis vulgaris, erythrokeratodermas
, and Sjogren-Larsson syndrome.