1/9. Congenital ichthyosiform erythroderma: particulate staining pattern of TGK.A case of late onset non-bullous congenital ichthyosiform erythroderma (CIE) was studied. This patient was not born as a collodion baby and did not have skin abnormalities until 9-10 years of age. She gradually developed erythroderma and fine scales, callosities of her feet, and a mild ectropion. Since recent work has revealed that in the majority of CIE patients, transglutaminase (TGK) is distributed in the cytoplasm of granular cells and horny cells (11), TGK was studied in our case. It was found that TGK was distributed along the cell periphery of horny cells and also in the cytoplasm of granular cells. In the control skins, TGK was stained along the cell periphery of horny cells and granular cells. The marginal band formation was normal. Involucrine and loricrin, the building materials of the marginal band whose-cross-linking is mediated by TGK, were normally stained in the upper epidermis. Cytoplasmic TGK of granular cells and normal development of the marginal band may serve as a helpful diagnostic marker of CIE, particularly because the often confusing collodion baby of lamellar ichthyosis may lack TGK staining and the marginal band altogether.- - - - - - - - - - ranking = 1keywords = ectropion (Clic here for more details about this article) |
2/9. Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma.Congenital ichthyoses are a group of heterogeneous disorders of cornification. Autosomal recessive congenital ichthyosis (ARCI) can be clinically subdivided into congenital ichthyosiform erythroderma and lamellar ichthyosis. Ultrastructurally, ARCI is classified into four groups: ichthyosis congenita (IC) types I-IV. The genetic background of the ARCI disorders is heterogeneous, but only one disease gene, transglutaminase 1, has been detected so far. We describe six patients with severe congenital ichthyosis from six different Scandinavian families. They could not be classified ultrastructurally into the four IC groups because of atypical findings of electron microscopy. These included abnormal lamellar bodies, alterations in keratohyalin, remnant organelles and lipid inclusions in the upper epidermal cells, which resembled the ultrastructural findings of harlequin ichthyosis (HI), although the HI phenotype was not present at birth. Some clinical features, such as thick scales, erythroderma, alopecia and ectropion were common to all patients. ichthyosis was usually accentuated in the scalp and four patients had clumped fingers and toes. None of the patients carried the transglutaminase 1 mutation. We conclude that ultrastructural findings resembling those detected in previous HI cases (type 1 and 2) can also be found in patients who do not have classic clinical features of that rare ichthyosis. This may be due to lack of specificity of ultrastructural markers for HI or to its clinical heterogeneity.- - - - - - - - - - ranking = 1keywords = ectropion (Clic here for more details about this article) |
3/9. Repair of cicatricial ectropion in an infant with harlequin ichthyosis using engineered human skin.PURPOSE: To report the use of an Apligraf (organogenesis, Inc., Canton, massachusetts, USA) human skin equivalent for repair of cicatricial ectropion in a patient with harlequin ichthyosis. DESIGN: Interventional case report. methods: A 6-week-old male child with harlequin ichthyosis and severe bilateral upper eyelid cicatricial ectropion underwent repair with Apligraf grafts. RESULTS: After the initial repair with Apligraf grafts, recurrent bilateral upper eyelid ectropion developed, requiring repeat Apligraf grafting at age 61 days. After the second graft, the eyelids remained well positioned until the child's sudden death from respiratory failure at age 6 months. CONCLUSION: Apligraf human skin equivalent facilitated the repair of cicatricial ectropion in a child with harlequin ichthyosis.- - - - - - - - - - ranking = 8keywords = ectropion (Clic here for more details about this article) |
4/9. Lamellar ichthyosis associated with pseudoainhum of the toes and eye changes.Classic lamellar ichthyosis is a rare, autosomal recessive, genetically heterogeneous skin disease caused by mutations in the transglutaminase 1 gene. Pseudoainhum is characterized by the appearance of a constricting band around a digit which may lead to spontaneous amputation. We describe a 41-year-old man with classic lamellar ichthyosis with unusual eye changes and pseudoainhum of both the fifth and the third right toes. eye abnormalities included bilateral ectropion of the lower eyelids, chronic blepharitis, and nuclear cataract. A radiometric assay revealed greatly reduced skin transglutaminase activity. To the best of our knowledge, this report is unique as classic lamellar ichthyosis with deficient transglutaminase activity has never been associated with pseudoainhum of the toes and the early development of nuclear cataract.- - - - - - - - - - ranking = 1keywords = ectropion (Clic here for more details about this article) |
5/9. Harlequin ichthyosis in association with hypothyroidism and juvenile rheumatoid arthritis.Harlequin ichthyosis is a rare and severe congenital erythrodermic ichthyosis characterized at birth by hyperkeratotic plates covering the entire body, ectropion, eclabium, poorly developed ears, and contractures of the hands and feet. Two Chinese children, a 2-year-old boy and an 11-year-old girl, presented with these classic features as well as alopecia and loss of eyebrows and eyelashes. The boy was small for his age and was found to have hypothyroidism at the age of 18 months; he is currently on thyroxine replacement therapy. At 6 years of age, the girl developed symmetrical polyarthritis associated with positive rheumatoid factor and radiologic evidence of erosive arthritis, suggestive of juvenile rheumatoid arthritis. She received prednisolone, nonsteroidal anti-inflammatory drugs (NSAIDs), and subsequently methotrexate for her arthritis, with clinical and radiologic improvement. Early therapy with oral retinoids in both children accelerated shedding of the hyperkeratotic plates as well as improved ectropion and eclabium. There was no major adverse reaction to oral retinoids. The development of juvenile rheumatoid arthritis in survivors with harlequin ichthyosis has not been previously described. The use of prednisolone and NSAIDs in the girl did not affect the skin condition, but the addition of methotrexate led to a decrease in erythema. The association with autoimmune disease is probably coincidental. The psychosocial impact of this severe lifelong disease on the two families was enormous. Early retinoid therapy may improve the disorder and help increase survival rates. A multidisciplinary approach, including psychosocial support of the affected families, is vital in the management of this lifelong disease.- - - - - - - - - - ranking = 2keywords = ectropion (Clic here for more details about this article) |
6/9. Harlequin fetus.We report a case of harlequin fetus born to the consanguineous parents. She had the typical skin manifestations of thick armour like scales with fissures, complete ectropion and eclabium, atrophic and crumpled ears and swollen extremities with gangrenous digits. Supportive treatment was given but the neonate died on the 4th day.- - - - - - - - - - ranking = 1keywords = ectropion (Clic here for more details about this article) |
7/9. Short foot length: a diagnostic pointer for harlequin ichthyosis.OBJECTIVE: Among the fetal skin disorders, harlequin ichthyosis is the one that has specific sonographic features in the antenatal period. A few cases of antenatal diagnosis of harlequin ichthyosis with typical facial features of ectropion and eclabium have been described. The manifestation of the phenotype is usually in the third trimester. Fetal skin biopsy can be done in the late second trimester for diagnosing fetal skin disorders. We aimed to see whether a short foot length could be a pointer for the diagnosis of harlequin ichthyosis in the second trimester before the full phenotypic manifestation, which is usually seen in the third trimester. methods: We report 3 cases of harlequin ichthyosis, 2 of them diagnosed in the third trimester with abnormal facial features and another second-trimester sonographic diagnosis based on short foot length, without eclabium and ectropion. RESULTS: In all 3 cases, the foot length was considerably smaller than the femur length, especially in the third case, in which the foot length was smaller than the femur length before the manifestation of the typical features of harlequin ichthyosis. CONCLUSIONS: Fetal foot length may be an important and probably the first marker seen in the second trimester for the diagnosis of harlequin ichthyosis.- - - - - - - - - - ranking = 2keywords = ectropion (Clic here for more details about this article) |
8/9. Ocular manifestations of congenital lamellar ichthyosis.PURPOSE: To describe the ophthalmic manifestations in a series of children with congenital lamellar ichthyosis. These cases presented with varying types of eyelid abnormality associated with the systemic disease. The clinical features and ophthalmic management were studied. methods: The case histories of three children presenting to the oculoplastic clinic were reviewed. All were diagnosed with congenital lamellar ichthyosis and under the care of the dermatology department. family history and pedigree analysis was performed to determine mode of genetic inheritance. Ocular examination for visual acuity, eyelid and eyelash malposition, lid function and closure were carried out. Corneal examination including tests for exposure was also done. RESULTS: All three patients had eyelid position abnormalities from the systemic disease. There was no clinical evidence of conjunctival involvement. One patient required full thickness skin grafts to treat corneal exposure secondary to lower lid ectropion. One had mild lower lid ectropion but without corneal exposure. The third case had the unusual finding of inward turning of the anterior lamella of the upper eyelid with a marked lash ptosis and only mild ectropion of the lower lid. CONCLUSIONS: Congenital lamellar ichthyosis is a heterogeneous disorder with phenotypic variability. The most common eyelid abnormality is cicatricial ectropion of the upper and mainly lower eyelids. Most cases are managed conservatively although in severe cases secondary corneal exposure may require surgical correction. In this condition, to the best of our knowledge, the tendency for the eyelids to turn inwards has not previously been described.- - - - - - - - - - ranking = 4keywords = ectropion (Clic here for more details about this article) |
9/9. Cicatricial ectropion in ichthyosis: a novel approach to treatment.Four kinds of ichthyosiform dermatoses have been described. Only lamellar ichthyosis or ichthyosis congenita is associated with the development of ectropion and subsequent eye symptoms. Conservative treatments have been tried but surgical correction of the ectropion was ultimately required for symptomatic relief. autografts have been used successfully, provided an available donor site can be found. Grafts taken from the arm, eyelids, postauricular skin, and groin have been used with success. An uncircumcised youth with total body involvement from ichthyosis developed bilateral upper and lower ectropion. The penile foreskin was the only possible suitable donor site because it seemed unaffected by the disease. A circumcision was performed and the foreskin divided into four separate full-thickness skin graft triangles to treat the four-lid ectropion. There was successful resolution of the eye symptoms and a watertight closure. To our knowledge, this is a unique case in which penile foreskin has been used to correct cicatricial ectropion.- - - - - - - - - - ranking = 9keywords = ectropion (Clic here for more details about this article) |