Recognition and management of congenital ichthyosis in a low-income setting.

We report the case of a 3-week old girl in The Gambia who presented to hospital with an undiagnosed skin disorder evolving since birth. Using telemedicine to seek specialist dermatology advice abroad, she was diagnosed with and managed for suspected congenital lamellar ichthyosis. Poor early recognition and limited resources, for both acute and chronic care, created significant challenges to optimal management; these were overcome, in part, by adopting a common sense, back-to-basics approach to treatment and by empowering the parents to take ownership of their infant's daily skin and eye care. This case highlights key global health issues associated with managing chronic, often debilitating, paediatric dermatological conditions in a low-income setting; namely, poor access to important diagnostic tools and medications, lack of experience and expertise in the management of severe skin disease and its associated complications, absence of long-term community support, alternative health beliefs and risk of sociocultural stigma.

[Ichthyosis and social stigma in Burkina Faso]. / Ichtyose et stigmatisation sociale au Burkina Faso.

BACKGROUND: Through the story of two families presenting ichthyosis, we report the support and social integration difficulties inherent in these genetic diseases. PATIENTS AND METHODS: Family No. 1: a 38-year-old shepherd and his wife of 25 years both had lamellar ichthyosis that had been present continually since childhood. They had had 2 stillborn infants as well as a live newborn that were all presenting lamellar ichthyosis. Family No. 2: a 45-year-old housewife was seen at our consultation with her 3 youngest children aged 8 years, 6 years and 18 months. According to the mother, at birth, all 3 children were covered with a membrane resembling plastic that crackled during movement, and they had red eyes. Examination of the 3 children revealed a clinical picture of lamellar ichthyosis with ectropion, malformed ears and brachydactyly. Although they presented delayed growth and weight development, psychomotor development was normal. There was no consanguinity between the parents. DISCUSSION: In both families, the visible nature of the dermatosis resulted in discrimination and ostracism. The precarious living conditions of the parents and the high cost of treatment in an African setting resulted in degradation of quality of life with exacerbation of the difficulties of social integration, resulting in a lack of schooling and a bleak future for these children.

Family burden in inherited ichthyosis: creation of a specific questionnaire.

BACKGROUND: The concept of individual burden, associated with disease, has been introduced recently to determine the "disability" caused by the pathology in the broadest sense of the word (psychological, social, economic, physical). Inherited ichthyosis belong to a large heterogeneous group of Mendelian Disorders of Cornification. Skin symptoms have a major impact on patients' Quality of Life but little is known about the burden of the disease on the families of patients. OBJECTIVES: To develop and validate a specific burden questionnaire for the families of patients affected by ichthyosis. METHODS: Two steps were required. First, the creation of the questionnaire which followed a strict methodological process involving a multidisciplinary team and families. Secondarily, the validation of the questionnaire, including the assessment of its reliability, external validity, reproducibility and sensitivity, was carried out on a population of patients affected by autosomal recessive congenital ichthyosis. A population of parents of patients affected by ichthyosis was enrolled to answer the new questionnaire in association with the Short Form Q12 questionnaire (SF-12) and a clinical severity score was filled for each patient. RESULTS: Ninety four families were interviewed to construct the verbatim in order to create the questionnaire and a cognitive debriefing was realized. The concept of burden could be structured around five components: "economic", "daily life", "familial and personal relationship", "work", and "psychological impact". As a result, "Family Burden Ichthyosis" (FBI) reproducible questionnaire of 25 items was created.Forty two questionnaires were analyzable for psychometric validation. Reliability (Cronbach's alpha coefficient = 0.89), reflected the good homogeneity of the questionnaire. The correlation between mental dimensions of the SF-12 and the FBI questionnaire was statistically significant which confirmed the external validity. The mean FBI score was 71.7 ± 18.8 and a significant difference in the FBI score was shown between two groups of severity underlining a good sensitivity of the questionnaire. CONCLUSIONS: The internal and external validity of the "FBI" questionnaire was confirmed and it is correlated to the severity of ichtyosis. Ichthyoses, and other chronic pathologies, are difficult to assess by clinical or Quality of Life aspects alone as their impact can be multidimensional. "FBI" takes them all into consideration in order to explain every angle of the handicap generated.

[Harlequin ichthyosis--medical and psychosocial challenges]. / Ichthyosis congenita gravis--eine medizinische und psychosoziale Herausforderung.

Harlequin ichthyosis is the most severe congenital keratinizing disorder. It is caused by mutations in the ABCA12 gene leading to defective lipid transport. The infants are born with ectropion, eclabium and fissured plate-like skin. Today these infants can survive with neonatal intensive care and retinoid therapy and need long-term interdisciplinary treatment in order to improve quality of life. However, the outcome in our case is impaired by severe psychomotor developmental delay, which has not yet been associated with Harlequin Ichthyosis.