ABSTRACT
BACKGROUND: Congenital ichthyosis is a generalized hyperkeratinization of the skin at birth. Depending on clinical aspects and severity, three forms of congenital ichthyosis have been defined: mitis, tarda, and gravis. Desquamation of the parchment-like hyperkeratinized skin begins shortly after birth and may require several weeks to complete. Skin alterations in the eyelid cause shortening of the anterior lamella, subsequently resulting in ectropion. This affects the upper eyelid more often than the lower and can lead to complications such as chronic palpebral or bulbar conjunctivitis and keratinization or exposure keratopathy. Here we present two case reports illustrating the course of ichthyosis congenita mitis and gravis. PATIENTS AND METHODS: Patient 1 (ichthyosis congenita mitis): a male baby prematurely born at 34+2 weeks of gestation was delivered by cesarean section. The entire body was covered by a parchment-like hyperkeratinized skin. Both eyes showed ectropion of the upper and the lower eyelid, which was more obvious with enforced lid closure. Frequent application of external ointment and spontaneous desquamation led to resolution of the ectropion. Patient 2 (ichthyosis congenita gravis): a male baby prematurely born at 35+4 weeks of gestation was delivered by cesarean section. At birth the child showed the signs of a collodion baby with ectropion of all four eyelids in combination with a characteristic "fish mouth" and rudimentary external ears. The child died on the 14th day of life of septicaemia. CONCLUSION: In mild forms of congenital ichthyosis surgical treatment of eyelid ectropion is not required. In more severe cases a skin graft may become necessary. Various although limited sources of graft material which are discussed can be considered.
Subject(s)
Ectropion/genetics , Infant, Premature, Diseases/genetics , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Abnormalities, Multiple/therapy , Biopsy , Child, Preschool , Chromosome Aberrations , Ectropion/diagnosis , Ectropion/therapy , Fatal Outcome , Follow-Up Studies , Genes, Dominant/genetics , Genes, Recessive/genetics , Humans , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/genetics , Ichthyosis, Lamellar/therapy , Infant , Infant, Newborn , Infant, Premature, Diseases/diagnosis , Infant, Premature, Diseases/therapy , Intensive Care, Neonatal , Male , Remission, Spontaneous , Skin/pathologyABSTRACT
The physiological function of the GPI-anchored ectoenzyme aminopeptidase P (APP) is still elusive. Most researchers suppose that this enzyme inactivates biologically active peptides like bradykinin, neuropeptide tyrosine (NPY) and others (Vanhoof et al., 1995). We demonstrate by immunohistology with a specific antibody raised in rabbits and measurement of enzymatic activity in suspensions and of confluent monolayers on microscopic coverslips ('monolayer kinetics') that APP is a cell surface enzyme (ectoenzyme) of endothelial and lymphoid cells.
