Ictiosis arlequín: presentación de un caso / Harlequin ichthyosis: presentation of a case

RESUMEN Las genodermatosis ictiosiformes constituyen un grupo heterogéneo de trastornos de la cornificación caracterizados por hiperqueratosis y descamación de la piel. La ictiosis arlequín es la forma más grave y agresiva de las ictiosis congénitas, presenta una baja prevalencia (1/300 000 nacimientos) con expresividad clínica variable, una evolución desfavorable y pronóstico reservado. Se presenta con un patrón autosómico recesivo y su diagnóstico prenatal es aún difícil. Se presentó el caso de un recién nacido masculino pretérmino de 34 semanas gestacionales, sin historia familiar de trastornos de piel, con un cuadro característico de ictiosis arlequín, quien falleció a los 11 días de vida. Se realizó la caracterización clínica y anatomopatológica de la enfermedad y se ofrece una revisión sobre esta rara entidad (AU).

ABSTRACT Ichthyosiform genodermatoses are a heterogeneous group of cornification disorders characterized by hyperkeratosis and skin flaking. Harlequin ichthyosis is the most aggressive and serious form of congenital ichthyoses, presenting a low prevalence (1/300 000 births), with variable clinical expressivity, an unfavorable evolution and reserved prognosis. It appears with an autosomal recessive pattern and its prenatal diagnosis is still difficult. The authors present the case of a male preterm newborn, of 34 gestational weeks, without family history of skin disorders, and clinical characteristics of Harlequin ichthyosis, who died at the 11 day of birth. The disease clinical and anatomopathologic characterization was carried out and a review of this rare entity is made (AU).

Harlequin Ichthyosis - A Case Report.

Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA 12 gene identified. Hence, genetic counseling and mutation screening of this gene should be considered in at-risk patients. Death usually occurred in the first 3 months of life due to sepsis, feeding problems and respiratory distress. With improved neonatal care and early introduction of retinoids, its survival rate has increased.

Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.

Harlequin ichthyosis (HI) is the most severe phenotype of the autosomal recessive congenital ichthyoses. HI is caused by mutations in the lipid transporter adenosine triphosphate binding cassette A 12 (ABCA12). Neonates are born with a distinct clinical appearance, encased in a dense, platelike keratotic scale separated by deep erythematous fissures. Facial features are distorted by severe ectropion, eclabium, flattened nose, and rudimentary ears. Skin barrier function is markedly impaired, which can lead to hypernatremic dehydration, impaired thermoregulation, increased metabolic demands, and increased risk of respiratory dysfunction and infection. Historically, infants with HI did not survive beyond the neonatal period; however, recent advances in neonatal intensive care and coordinated multidisciplinary management have greatly improved survival. In this review, the authors combine the growing HI literature with their collective experiences to provide a comprehensive review of the management of neonates with HI.

Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.

Harlequin ichthyosis (HI) is the most severe form of recessive congenital ichthyosis, and is frequently lethal. We describe a family with prenatal diagnosis of HI in two siblings. We applied genomic capture and massively parallel sequencing to detect all mutations in 20 genes, including ABCA12, with inherited mutations that predispose to congenital ichthyosis. Sequence analysis of the ABCA12 gene identified two mutations, c.5232 G>A (p.Trp1744*) in exon 34 and c.6443 C>A (p.Pro2148Gln) in exon 44, each in a heterozygous state. Sanger sequencing confirmed that each parent was a heterozygous carrier for one of the variants. The spectrum of mutations identified in this study and previous studies reveals a novel compound mutation of ABCA12.

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

OBJECTIVE: To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these patients. DESIGN: Multicenter, retrospective, questionnaire-based survey. SETTING: Dermatology research institute. PARTICIPANTS: Patients with harlequin ichthyosis for whom we had performed ABCA12 mutation analysis. MAIN OUTCOME MEASURES: Referring physicians were asked to complete a questionnaire using the patients' notes, detailing the clinical outcome of the affected child. In each case, the causative ABCA12 mutation was identified using standard polymerase chain reaction and sequencing techniques. RESULTS: Of the 45 cases, the ages of the survivors ranged from 10 months to 25 years, with an overall survival rate of 56%. Death usually occurred in the first 3 months and was attributed to sepsis and/or respiratory failure in 75% of cases. The early introduction of oral retinoids may improve survival, since 83% of those treated survived, whereas 76% who were not given retinoids died. Recurrent skin infections in infancy affected one-third of patients. Problems maintaining weight affected 44%. Three children developed an inflammatory arthritis, and developmental delay was reported in 32%. Mutation analysis revealed that 52% of survivors had compound heterozygous mutations, whereas all deaths were associated with homozygous mutations. CONCLUSIONS: Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal. With improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing. Compound heterozygotes appear to have a survival advantage.

Feto en Arlequín: a propósito de un caso / Harlequin fetus: a case report

Se presenta un caso de un recién nacido de 2900 gramos, sexo masculino y portador de un Síndrome del Feto en Arlequín, con manifestaciones fenotípicas de ectropion, eclabium, alopecia y queratosis palmar y plantar. Es una enfermedad autosómica recesiva muy grave y rara. No se encontró antecedentes de consanguinidad en los padres. Se realiza una revisión de los elementos fundamentales de la fisiopatogenia. No se encontró en la literatura nacional un caso publicado similar(AU)

It is prsented a newborn case, male, 2900 grams, carrier of Harlequin Fetus Syndrome, with phenotipics of ectropion, eclabium, alopecia, palmar and plantar keratosis. It is an autonomic, recesive, weird, and severe disease. There were not found consanguinity antecedents in the parents. The main pathophysiological elements were checked. In the national bibliography has not been published a similar case(EU)

Relato de caso: bebê arlequim – ictiose congênita / Case report: baby harlequin - congenital ichthyosis

Feto arlequim é uma variante grave da ictiose congenita, uma herança autossômica recessiva que causa alteração da queratinização da pele, que incide em cerca de 1/100.000 nascimentos e está geralmente associada a consaguinidade dos pais. Manifesta-se ao nascimento como uma pele espessada que evolui para rachaduras generalizadas, comprometendo as suas funções básicas e predispondo a infecções. Relata-se o caso de um RN do sexo feminino, cujos pais não referem nenhum grau de parentesco. A mesma foi mantida em isolamento em incubadora, mas feleceu no nono dia de vida por insuficiência respiratória restritiva.

Harlequin fetus is a variant of severe congenital ichthyosis, an autosomal recessive heredity make change in the keratinization of skin, which appear around 1/100.000 births and is usually associated with consaguineus parents. At birth it seems like a thicken skin that develops into widespread cracks, affecting its basics functions and predisposes to infections. We report the case of a female newborn, whose parents don’t mention any degree of kinship. The baby stood on isolation in incubator, but died at ninth day of life from restrictive respiratory failure.

A retrospective study on 16 collodion babies.

Sixteen collodion babies followed in the Neonatal Care Unit between January 1982 and December 1994 were evaluated retrospectively. The preterm/term ratio was 1.6, and complete shedding of the collodion membrane took an average of 21.9 days (range 18-46 days). Problems noted were marked temperature instability, defective barrier function, increased insensible water loss predisposing to hypernatremic dehydration, cutaneous infections and septicemia. Hypernatremia was observed in 11 (68.7%) and septic infection in seven patients (43.7%). All the infants were treated topically with vaseline containing five percent lactic acid. In the hypernatremic infants, intravenous fluid was administered for rehydration. In the septic infants, antibiotics were used according to the antibiogram. Four of the infants died due to septicemia. The mortality rate was 25 percent, and the major complications included hypernatremia, cutaneous infection and sepsis.