Ichthyosis congenita type III

Arnold, Marie-Luise; Anton‐Lamprecht, I.; Melz-Rothfuss, B.; Hartschuh, W

doi:10.1007/bf00440599

Cited by 51 publications

(5 citation statements)

References 17 publications

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“…There is only one case report of this type, which .showed severe generalized scaling of the face, trnnk, and extremities, pronounced erythroderma, palmo-plantar hyperkeratosis, dyskeratotic nails, hypospadias, hypogonadism, and growth retardation. Electron microscopy reveals markedly suppressed keratinization, binuclear cells, and tumor cell-like nuclei with indentations (1,3,4,9,10).…”

Section: Discussionmentioning

confidence: 99%

Collodion baby and lamellar ichthyosis

Sandler

Hashimoto

1998

J Cutan Pathol

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It is important to differentiate the collodion baby from harlequin ichthyosis as the latter rarely survives past the first few days of life. Occasionally, babies share features of both disorders and defy a clinical diagnosis. We recently encountered such a baby who initially presented with harlequin-like features, but evolved into lamellar ichthyosis once the keratin cast was shed. Since the routine histology of all these ichthyoses is similar, we used electron microscopy to study serial biopsy specimens from the affected infant on days 7, 14, and 150, and compared them to our own other cases of harlequin ichthyosis and lamellar ichthyosis. Electron microscopic studies of our case revealed that the marginal band of cornified cells of the stratum corneum was absent when the baby exhibited collodion/harlequin ichthyosis features. Another biopsy taken when the clinical picture evolved into lamellar-like ichthyosis, showed a well-formed marginal band in the cornified cells. In harlequin ichthyosis, the marginal band is present at birth. It is suggested that electron microscopy can differentiate severe collodion baby from harlequin ichthyosis at birth using the absence of the marginal band. Previously reported features of harlequin ichthyosis, such as the presence of giant mitochondria and an abnormal formation of the marginal band in luminal villi of acrosyringeal eccrine duct, were absent in our case.

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Section: Discussionmentioning

confidence: 99%

Collodion baby and lamellar ichthyosis

Sandler

Hashimoto

1998

J Cutan Pathol

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“…Most forms of the autosomal recessive ichthyoses are hyperproliferative with moderate thickening not only of the SC but also of the underlying epidermis. Anton-Lamprecht and others (Arnold and Anton-Lamprecht, 1985;Arnold et al, 1988;Niemi et al, 1992Niemi et al, , 1994 have described ultrastructural criteria for subsets of patients with either numerous intracellular droplets (ichthyosis congenita type I) or additional cholesterol cleft within corneocytes (ichthyosis congenita type II).…”

Section: Congenital Keratinization Disordersmentioning

confidence: 99%

Epidermal barrier in disorders of the skin

Fartasch¹

1997

Microsc. Res. Tech.

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The water permeability barrier of the stratum corneum (SC) seems primarily to be regulated by the lamellarly arranged lipid bilayers between the corneocytes, which originate largely from polar lipid precursors provided by the cells of stratum granulosum via exocytosis of the lamellar body (LB) content. In particular, the structural organization of these intercellular lipid lamellae seems to be responsible for the very low water permeability of the intact skin, and these lipid‐rich structures might also influence the desquamation process in the SC. The aim of this study was to obtain further insight into the distribution and organization of the epidermal lipids (EL) and the mechanism involved in desquamation and barrier function in normal human skin and scaling skin disorders. Biopsies of healthy human skin (n = 12), of inflammatory skin diseases (atopic dry skin (n = 9), psoriatic skin lesions [n = 2]), and of hereditary keratinization disorders (autosomal recessive ichthyoses congenita (n = 3), X‐chromosomal ichthyosis (XCI) [n = 3]) were analyzed utilizing a special fixation protocol with ruthenium tetroxide (RuO4) postfixation. While the atopic dry skin revealed normal barrier structures, the psoriasis lesions were characterized by severe alteration of the lipid structures leading to an abnormal interaction with the desmosomal unit. While the intercellular domains in some of the studied keratinization disorders showed an impaired distribution of the EL (autosomal recessive ichthyoses), X‐chromosomal ichthyosis showed normal lipid architecture. Dry and scaly skin disorders are therefore not always accompanied by an impairment of the water permeability barrier. Microsc. Res. Tech. 38:361–372, 1997. © 1997 Wiley‐Liss, Inc.

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“…Their presence may confer milky optical effects to the affected nails. Numerous ‘lipidic’ inclusions of similar type are also observed in the hyperkeratotic scales of a hyperproliferative subset of lamellar ichthyosis, nonbullous congenital ichthyosiform erythroderma 38 …”

Section: Discussionmentioning

confidence: 99%

Hereditary 'white nails': a genetic and structural study

et al. 2004

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Genetic linkage indicates that the gene defect underlying the leuconychia in the family studied resides on chromosome 12q13. As the type II keratins map within this chromosomal interval, it is possible that a mutation in one of these keratin genes may be a cause of the hereditary leuconychia. The white appearance of nails in this disease seems to be due to an abnormal keratinization of cells originating from the proximal nail matrix, leading to the presence of abundant intracellular vacuoles and to a lesser compactness of keratins.

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Ichthyosis congenita type III

Cited by 51 publications

References 17 publications

Collodion baby and lamellar ichthyosis

Collodion baby and lamellar ichthyosis

Epidermal barrier in disorders of the skin

Hereditary 'white nails': a genetic and structural study

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