Presentation
Systemic Features: The skin changes are present at birth and consist of an ichthyosiform erythroderma. Hyperkeratosis is also present at birth and full blown ichthyosis develops during infancy. [disorders.eyes.arizona.edu]
Presents a new chapter on mucous membrane lesions, with increased coverage of the mouth and genital areas. Features 200 new or replaced photographs of unparalleled quality. Includes European drug names when appropriate. [books.google.de]
Table 2 Major conditions in which ichtyosis and alopecia are both present (14). [ojrd.biomedcentral.com]
Clinical presentation and disease course The ichthyoses are present at birth or later in life. At birth, the newborns present with generalised scaling associated or not with generalised redness (erythroderma). [geneskin.org]
The X-linked dominant type, which this patient had, presents with milder asymmetric shortening of long bones. [healio.com]
Entire Body System
- Amyloidosis
A hereditary generalized amyloidosis due to cystatin C amyloid deposition. [nectarmutation.org]
7 Amyloidosis, Finnish Type 1 Amyotrophic Lateral Sclerosis 16, Juvenile 1 Amyotrophic Lateral Sclerosis Type 1 3 Amyotrophic Lateral Sclerosis Type 10 4 Amyotrophic Lateral Sclerosis Type 12 2 Amyotrophic Lateral Sclerosis Type 14 1 Amyotrophic Lateral [preventiongenetics.com]
- Hodgkin Lymphoma
People with ichthyosis may have systemic disease, such as: Underactive thyroid Sarcoidosis Hodgkin lymphoma Cancer ( ichthyosis may be a cutaneous marker of internal malignancy ) HIV infection Ichthyosis may be provoked by certain medications: Nicotinic [dermnetnz.org]
Specific skin lesions occurring in a patient with Hodgkin's lymphoma. Australas J Dermatol. 1999 Feb. 40(1):41-3. [Medline]. Patel N, Spencer LA, English JC 3rd, Zirwas MJ. Acquired ichthyosis. J Am Acad Dermatol. 2006 Oct. 55(4):647-56. [Medline]. [emedicine.medscape.com]
- Broad Thumb
Thumb And Toes 1 STAR Syndrome 1 Stargardt Disease 1 7 Stargardt Disease 3 4 Stargardt Disease 4 4 Steel Syndrome 1 Stickler Syndrome Type 1 4 Stickler Syndrome, Type 2 4 Stickler Syndrome, Type 3 3 Stickler Syndrome, Type 4 4 Stickler Syndrome, Type [preventiongenetics.com]
Skin
- Eczema
Ichthyosis vulgaris Skin may appear normal at birth By the age of 5, skin is dry with fine white scale Affects abdomen, arms and legs, sparing creases of arms and legs Causes keratosis pilaris Palms are excessively lined Associated with atopic eczema [dermnetnz.org]
Those patients with Atopic Dermatitis and Eczema will occasionally develop shield ulcers cataracts. Ichthyosis is an autosomal recessive disorder associated with cuneiform cataracts and nuclear sclerosis. [johngoosey.com]
Hair abnormalities, severe eczema and allergy manifestations are associated with scaling erythroderma in Netherton Syndrome. [geneskin.org]
Psoriasiform plaques (Figure 1B-C ), angular cheilitis, periungueal inflammation, dystrophic nails, hypohidrosis, and atopic eczema can be present. The palms and soles are generally unaffected; one patient had a plantar keratoderma [ 3 ]. [ojrd.biomedcentral.com]
[…] online-only DERMATITIS ARTEFACTA (see NEUROTIC EXCORIATION ) DERMOGRAPHISM DIARRHEA DI GEORGE SYNDROME DISSEMINATED INTRA VASCULAR COAGULOPATHY (DIC) (CONSUMPTIVE COAGULOPATHY) DISTENDED ABDOMEN DOWN SYNDROME DROWNING AND NEAR DROWNING DRUG ERUPTIONS E ECZEMA [euro-libris.ro]
Neurologic
- Apraxia
[…] disability Alport syndrome Alström syndrome Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis familiar Androgen insensitivity syndrome Aniridia APECED syndrome Apparent mineralocorticoid excess Arterial tortuosity syndrome Ataxia-oculomotor apraxia [igenomix.us]
Congenital, Due To 21-Hydroxylase Deficiency 1 Adrenal Insufficiency, Congenital, With 46,XY Sex Reversal, Partial Or Complete 4 Adrenocortical Carcinoma, Hereditary 1 Adrenoleukodystrophy 4 Adult Hypophosphatasia 5 Adult Onset Ataxia With Oculomotor Apraxia [preventiongenetics.com]
Treatment
Treatment Treatment Options: No treatment is available. [disorders.eyes.arizona.edu]
Long-term (1 yr) treatment with oral isotretinoin has resulted in bony exostoses in some patients, and other long-term adverse effects may arise. [merckmanuals.com]
Walsh, along with a multi-disciplinary team of contributors guide you through the sweeping developments in diagnosis and treatment of the mother fetus, and neonate. [books.google.com]
All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder. [firstskinfoundation.org]
Prognosis
Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. The classic symptoms of Conradi-Hünermann syndrome involved the skeleton, skin and eyes. [rarediseases.org]
Cataract removal may improve vision but the poor prognosis for longevity requires caution be used. [disorders.eyes.arizona.edu]
Prognosis Life expectancy in patients with IFAP syndrome can vary from death in the neonatal period to normal surviving. The oldest reported patient was 33 years old [ 10 ]. Cardiopulmonary complications were the main cause of death. [ojrd.biomedcentral.com]
Prognosis The dryness of the eyes can be treated with artificial tears, ointments, bandage contact lenses, punctal occlusion, and possibly surgery, depending on the presence of abnormal lid closure or limbal stem cell deficiency. [emedicine.medscape.com]
Etiology
However, this patient had findings suggestive of a hereditary etiology, which initially prompted the ophthalmic consultation, and further tests were done. [healio.com]
• In-depth coverage addresses each disorder in all its manifestations—from the common to the unusual including etiology, symptoms, signs, treatment, and clinical pearls. • An anatomical table of contents helps you pinpoint a diagnosis when presented [euro-libris.ro]
Classified by etiology Age-related cataract Immature Senile Cataract (IMSC) - partially opaque lens, disc view hazy Mature Senile Cataract (MSC) - Completely opaque lens, no disc view Hypermature Senile Cataract (HMSC) - Liquefied cortical matter: Morgagnian [cs.mcgill.ca]
Awareness of orbital, ocular and adnexal development and the migratory pattern of neural crest cells is useful for understanding the etiology of congenital orbital, eyelid and lacrimal anomalies. [reviewofophthalmology.com]
Epidemiology
“Blindness Due to Cataract: Epidemiology and Prevention.” Annual Review of Public Health 17 (1996): 159-77. ↑ Klein, Barbara, Ronald Klein, Kristine Lee, and Lisa Grady. Statin Use and Incident Nuclear Cataract. [psychology.wikia.com]
It has also been recognized, from animal, and epidemiological studies in humans, that microwaves can cause cataracts. [johngoosey.com]
Epidemiology Cataracts are the leading cause of blindness in the world. [cs.mcgill.ca]
Epidemiology Frequency United States Ichthyosis vulgaris is the most common form and is an autosomal dominant trait with an incidence of 1 case per 300 population. [emedicine.medscape.com]
Epidemiology The association of ichthyosis follicularis, atrichia, and photophobia was first reported as a syndrome by MacLeod in 1909 in three boys [ 1 ]. [ojrd.biomedcentral.com]
Pathophysiology
Pathophysiology Ichthyosis vulgaris is characterized by onset in early childhood, usually between age 3 and 12 months, with fine scales and varying degrees of dryness of the skin. [emedicine.medscape.com]
Prevention
But cataract surgery may help prevent these quality-of-life changes. [johngoosey.com]
Prevention Edit Although cataracts have no scientifically proven prevention, it is sometimes said that wearing ultraviolet -protecting sunglasses may slow the development of cataracts. [10] [11] Regular intake of antioxidants (such as vitamin A, C and [psychology.wikia.com]
Prevention Although cataracts have no scientifically proven prevention, it is sometimes said that wearing ultraviolet -protecting sunglasses may slow the development of cataracts. [cs.mcgill.ca]
It has a protective function against external aggressions and prevents the fluid loss. Genetic defects affecting each of its components have now been identified in a majority of ichthyosis. [geneskin.org]
By replacing the aqueous humor with a thicker viscoelastic, we can prevent the collapse of the eye, absorb free radicals generated from the emulsification and protect ocular structure. [slideshare.net]