A practical approach to ichthyoses with systemic manifestations

Abstract

Inherited ichthyoses are rare disorders in terms of patient numbers, but abundant in terms of clinical-genetic subtypes. These disorders are often associated with severe systemic manifestations, in addition to significant medical, cosmetic and social problems. There are 17 subtypes of syndromic ichthyosis identified so far and most patients with these syndromes are living in countries with high consanguinity rates. Frequently, clinicians cannot make a definitive diagnosis and patients are not managed properly owing to the rarity and complexity of these disorders. These difficulties make this group of ichthyosis and the patients living with them 'orphan'. After skin and skin appendages, nervous system is the most frequently involved system in ichthyosis syndromes. Thus, association of ichthyosis with neurological symptoms provides an important clue for diagnosis. In this article, we aim to increase clinicians' comprehension of ichthyosis syndromes by providing a symptomatology-based approach based on this observation. Additionally, we provide a review of ichthyosis syndromes, with special emphasis on neurological symptoms, hoping to attract interest to this complicated field.

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis

“…Netherton syndrome (MIM 256500) is considered the most frequent ichthyosis syndrome, it is typically characterized by migratory, serpiginous red plaques with double-edged scaly borders. However patients usually have other manifestations including hair shaft abnormalities that are not observed in the studied case [ 46 ]. Loricrin keratoderma (MIM 604117) designed as ichthyotic variant form of Vohwinkel’s syndrome without hearing loss is clinically characterized by erythematous hyperkeratotic plaques similar to those seen in PSEK but it differs by the presence of mutilating palmoplantar keratoderma [ 32 ].…”

Clinical and molecular characterization and response to acitretin in three families with Sjögren‐Larsson syndrome

“…Even though the typical ichthyosis, spasticity, and mental retardation triad are considered diagnostic for SLS, genetic analysis is important especially in first 2 years of life before the full‐blown clinical picture is present. In an ichthyotic infant with mental and motor developmental delays in milestones, SLS should be an important candidate in differential diagnosis . Accompanying pruritus and consanguinity in family are other important clues to consider the diagnosis of SLS.…”

Proposal for a 6‐step approach for differential diagnosis of neonatal erythroderma

“…Prematurity would be more likely in cases of ichthyosis prematurity syndrome (IPS) and collodion babies. 21,81 Preterm birth was described in 15/74 cases (median 35 weeks; range 26-36 weeks), mainly in neonates with NS (n = 5) (Appendix S3), and one collodion baby (out of 2) was born prematurely (33 weeks). Family history was positive in 13/74 cases and negative in 28/74 cases.…”