A newborn with peeling skin

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A newborn with peeling skin

J Fam Pract. 2009 June;58(6):317-319

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References

1. Schwartz RA. Ichthyosis vulgaris, hereditary and acquired. Available at: http://emedicine.medscape.com/article/1112753-overview. Accessed May 2, 2009.

2. Foundation for Ichthyosis & Related Skin Types FIRST). About ichthyosis. Available at: http://www.scalyskin.org/column.cfm?ColumnID=13. Accessed May 8, 2009.

3. Bale SJ, Richard G. Autosomal recessive congenital ichthyosis. Gene Reviews. December 11, 2008. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=li-ar. Accessed April 29, 2009.

4. Shwayder T, Akland T. Neonatal skin barrier: structure, function, and disorders. Dermatol Ther. 2005;18:87-103.

5. Akiyama M. Severe congenital ichthyosis of the neonate. Int J Dermatol. 1998;37:722-728.

6. Moss C. Genetic skin disorders. Semin Neonatol. 2000;5:311-320.

7. Parmentier L, Blanchet-Bardon C, Nguyen S, et al. Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity. Hum Mol Genet. 1995;4:1391-1395.

8. Akiyama M. Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. Arch Dermatol. 2006;142:914-918.

9. Ladhani S, Evans RW. Staphylococcal scalded skin syndrome. Arch Dis Child. 1998;78:85-88.

10. Farrell AM. Staphylococcal scalded-skin syndrome. Lancet. 1999;354:880-881.

11. Wallach D. Diagnosis of common, benign neonatal dermatoses. Clin Dermatol. 2003;21:264-268.

12. Elish D, Silverberg NB. Infantile seborrheic dermatitis. Cutis. 2006;77:297-300.

13. Kim HJ, Lim YS, Choi HY, et al. Generalized seborrheic dermatitis in an immunodeficient newborn. Cutis. 2001;67:52-54.

14. Lacour M, Mehta-Nikhar B, Atherton DJ, et al. An appraisal of acitretin therapy in children with inherited disorders of keratinization. Br J Dermatol. 1996;134:1023-1029.

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Diagnosis: Congenital ichthyosis

Our patient had the congenital form of ichthyosis—a disorder that is sometimes referred to as fish scale disease. Congenital ichthyosis is a phenotypic expression of several different genotypes, and presents with varying degrees of severity. It is fairly common, occurring in 1 in 250 to 300 people.^1,2 An extremely rare acquired form of ichthyosis may appear in adults, usually as a result of systemic disease or a medication reaction.

The diagnosis of congenital ichthyosis is made based on skin findings. Skin biopsy and genetic testing are typically not necessary for diagnosis.

Congenital ichthyosis is suspected in newborns who are either collodion babies (as was our patient) or who have harlequin ichthyosis.³

Collodion babies appear to be encased in a cellophane-like membrane at birth. The surface of the skin of the collodion baby usually appears taut and shiny. An absence of eyebrows, eyelashes, and scalp hair is common in these newborns; scarring alopecia can occur.⁴

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Infants born with congenital ichthyosis will require adequate pulmonary support, humidified incubators, fluid replacement, and wet compresses.

The skin undergoes a variable degree of cracking and fissuring. Affected newborns may demonstrate ectropion (everted eyelids), eclabium (mouth held open by taut skin), and contracture of the fingers and joints.^4,5 Degree of skin involvement at birth does not necessarily correlate with later disease severity.⁶

The collodion baby usually has a transglutaminase 1 gene mutation, which can cause either lamellar ichthyosis or congenital ichthyosiform erythroderma.⁷ (Absence of transglutaminase causes failed cross-linking of the proteins in the keratinocyte cellular envelope.)

Harlequin ichthyosis is a severe and usually lethal form of congenital ichthyosis, caused by a mutation in the ABCA12 gene. The product of this gene acts as a lipid transporter in epidermal keratinocytes. It is crucial for the correct formation of intercellular lipid layers in the stratum corneum, and its absence causes defective lipid transport and a loss of the skin lipid barrier.⁸

Affected infants have thick, armorlike plates of skin with deep moist fissures, along with severe ectropion and eclabium.^4,5 Scaling and fissuring occur on the scalp, but hair is usually present.⁵

A newborn with peeling skin

References

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