| ARPKD | autosomal recessive polycystic kidney disease |
|---|---|
| ARSACS | autosomal recessive spastic ataxia of Charlevoix-Saguenay |
| PHAVER | pterygia-heart defects-autosomal recessive inheritance-vertebral defects-ear anomalies-radial defect... |
| CHIME | coloboma, heart anomaly, ichthyosis, mental retardation, ear abnormality |
| IBIDS | ichthyosis-brittle hair-impaired intelligence-decreased fertility-short stature [syndrome] |
| acquired ichthyosis | A thickening and scaling of the skin associated with some malignant diseases (e.g., Hodgkin's disease, lymphosarcoma), leprosy, and severe nutritional deficiencies. (05 Mar 2000) |
|---|---|
| harlequin ichthyosis | Foetal form of ichthyosis distinct from lamellar ichthyosis in its patchy character and the poor prospect of the patient surviving the neonatal period. (05 Mar 2000) |
| X-linked ichthyosis | A form of ichthyosis, due to 3-beta-hydroxysteroidsulfate sulfatase deficiency, that appears at birth or in early infancy and affects males; characterised by scaling predominantly on the neck and trunk but not on the palms and soles; histologically, there is hyperkeratosis, a granular layer in the epidermis, and normal epidermal cell turnover. Synonym: steroid sulfatase deficiency. (05 Mar 2000) |
| nacreous ichthyosis | A variant of ichthyosis characterised by dry pearly scales. (05 Mar 2000) |
| ichthyosis | <dermatology> A group of cutaneous disorders characterised by increased or aberrant keratinisation, resulting in noninflammatory scaling of the skin. Many different metaphors have been used to describe the appearance and texture of the skin in the various types and stages of ichthyosis, for example alligator, collodion, crocodile, fish and porcupine skin. most ichthyoses are genetically determined, while some may be acquired and develop in association with various systemic diseases or be a prominent feature in certain genetic syndromes. The term is commonly used alone to refer to i. Vulgaris. (18 Nov 1997) |
| ichthyosis congenita neonatorum | Generalised ichthyosis with parchment-like skin seen in premature babies. (05 Mar 2000) |
| ichthyosis corneae | An ocular complication of a congenital abnormality of the skin with corneal keratinization, dryness, and scaling. (05 Mar 2000) |
| ichthyosis foetalis | Recessive condition in Holstein and Norwegian red poll cattle resembling harlequin foetus in humans. See: harlequin foetus (05 Mar 2000) |
| ichthyosis follicularis | A form of autosomal dominant type of ichthyosis, with horny follicular plugging of the extensor surfaces of the extremities; onset in early childhood. (05 Mar 2000) |
| ichthyosis hystrix | See: bullous congenital ichthyosiform erythroderma Origin: G. Hystrix, hedgehog (05 Mar 2000) |
| ichthyosis intrauterina | most common form of ichthyosis characterised by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait. (12 Dec 1998) |
| ichthyosis, lamellar | A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalised and marked with grayish-brown quadrilateral scales, adherent at their centres and free at the edges. In some cases, scales are so thick that they resemble armored plate. (12 Dec 1998) |
| ichthyosis linearis circumflexa | Congenital or infantile migratory polycyclic erythema and scaling that shows a peripheral double margin; persists throughout life and may be associated with trichorrhexis invaginata in Netherton's syndrome; autosomal recessive inheritance. (05 Mar 2000) |
| ichthyosis palmaris et plantaris | The occurrence of symmetrical diffuse or patchy areas of hypertrophy of the horny layer of the epidermis on the palms and soles; a group of ectodermal dysplasias of considerable variety, and either autosomal dominant or recessive inheritance. Synonym: ichthyosis palmaris et plantaris, keratoderma palmaris et plantaris, keratoderma symmetrica, keratoma plantare sulcatum, keratosis palmaris et plantaris, tylosis palmaris et plantaris. (05 Mar 2000) |
| ichthyosis scutulata | Ichthyosis marked by diamond-shaped or shield-shaped lesions. (05 Mar 2000) |