Harlequin ichthyosis
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《美国医学杂志》
Department of Pediatrics, Jaykaylon Hospital, SMS Medical College, Jaipur, India
Case Report
A 34-36 week preterm born presented a startling appearance that immediately prompted a diagnosis of harlequin ichthyosis. The previous baby, an eight-month gestation stillborn male, had been similarly afflicted of the same presentation.
The skin of the baby was split into 4-5cm plaques of rigid fixed skin separated by deep red fissures Figure1. Her facial features were obliterated by hidebound skin, severe ectropion and eclabium. Fingers were held in flexed contractures like 'mittens'. Movements were restricted and sucking was ineffectual. Supportive management in the form of hydration, emollients and orogastric feeding was carried out however, the patient expired on the third day.
Discussion
The name harlequin derives from the dress of harlequin clowns that have diamond-like patches similar to the plaques seen on the skin of the affected infants. With increasing survival, the term "harlequin fetus" has been replaced by harlequin ichthyosis.[1]
Kesall et al identified a homozygous region on the chromosome 2q35 and sequenced within it the ABCA12 gene (MIM #242500).[2] Since the epidermis in harlequin ichthyosis displayed abnormal lamellar granule formation, they suggested that ABCA12 might play a critical role in the formation of lamellar granules and the discharge of lipids into the intercellular spaces, explaining the epidermal barrier defect seen in this disorder.
Absence of effective sucking causes dehydration and hypoglycemia, which along with large amount of water and protein loss from denuded skin contributes the commonest causes of death, namely hypernatremic dehydration, acute renal failure, hypoglycemia and superadded infection.
The diagnosis is made by the pathgnomonic appearance. While death within the first week was considered inevitable till the 1980, several survivors have been reported athough almost all have had ichthyosis resembling nonbullous ichthyosiform erythroderma (NBIE) as the eventual outcome.
Present treatment primarily entails the use of intensive nursing care and supportive measures. Specific therapy includes etretinate at a dose of 1mg/kg/day. Treatment has been continued for several years in some patients, and it may be required indefinitely to prevent relapse.
Given the dilemma of providing intensive neonatal care to these patients while accepting the outcome of severe life-long ichthyosis poses a difficult situation to both caretakers and families. Genetic counseling and the availability of prenatal diagnosis using fetal skin biopsy in select centers must be made known to parents.
Acknowledgement
SM drafted the manuscript and reviewed the literature, RA was responsible for the diagnosis and critical review of the manuscript.
References
1. Mclean WHI, Judge MR, Munro CS. Disorders of keratinization. In Burns T, Breathnach S, Cox N, Griffiths C, eds. Rook's Textbook of Dermatology. Vol 2. 7th edn. Blackwell Publication; 2004; 34.23-34.26.
2. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 2005; 76: 794-803.(Mukhopadhyay Sagori, Agar)
Case Report
A 34-36 week preterm born presented a startling appearance that immediately prompted a diagnosis of harlequin ichthyosis. The previous baby, an eight-month gestation stillborn male, had been similarly afflicted of the same presentation.
The skin of the baby was split into 4-5cm plaques of rigid fixed skin separated by deep red fissures Figure1. Her facial features were obliterated by hidebound skin, severe ectropion and eclabium. Fingers were held in flexed contractures like 'mittens'. Movements were restricted and sucking was ineffectual. Supportive management in the form of hydration, emollients and orogastric feeding was carried out however, the patient expired on the third day.
Discussion
The name harlequin derives from the dress of harlequin clowns that have diamond-like patches similar to the plaques seen on the skin of the affected infants. With increasing survival, the term "harlequin fetus" has been replaced by harlequin ichthyosis.[1]
Kesall et al identified a homozygous region on the chromosome 2q35 and sequenced within it the ABCA12 gene (MIM #242500).[2] Since the epidermis in harlequin ichthyosis displayed abnormal lamellar granule formation, they suggested that ABCA12 might play a critical role in the formation of lamellar granules and the discharge of lipids into the intercellular spaces, explaining the epidermal barrier defect seen in this disorder.
Absence of effective sucking causes dehydration and hypoglycemia, which along with large amount of water and protein loss from denuded skin contributes the commonest causes of death, namely hypernatremic dehydration, acute renal failure, hypoglycemia and superadded infection.
The diagnosis is made by the pathgnomonic appearance. While death within the first week was considered inevitable till the 1980, several survivors have been reported athough almost all have had ichthyosis resembling nonbullous ichthyosiform erythroderma (NBIE) as the eventual outcome.
Present treatment primarily entails the use of intensive nursing care and supportive measures. Specific therapy includes etretinate at a dose of 1mg/kg/day. Treatment has been continued for several years in some patients, and it may be required indefinitely to prevent relapse.
Given the dilemma of providing intensive neonatal care to these patients while accepting the outcome of severe life-long ichthyosis poses a difficult situation to both caretakers and families. Genetic counseling and the availability of prenatal diagnosis using fetal skin biopsy in select centers must be made known to parents.
Acknowledgement
SM drafted the manuscript and reviewed the literature, RA was responsible for the diagnosis and critical review of the manuscript.
References
1. Mclean WHI, Judge MR, Munro CS. Disorders of keratinization. In Burns T, Breathnach S, Cox N, Griffiths C, eds. Rook's Textbook of Dermatology. Vol 2. 7th edn. Blackwell Publication; 2004; 34.23-34.26.
2. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 2005; 76: 794-803.(Mukhopadhyay Sagori, Agar)