For any autosomal recessive gene, if one definitive mutation is found by XomeDxSlice sequencing, AND the gene fits the type of ichthyosis reported by the referring physician, capillary sequencing will be used to fill in sequence for exons that are not [genedx.com]

Some physicians recommend plastic surgery to correct it because if left untreated, damage to the cornea can develop leading to impaired vision. [rarediseases.org]

Carini, Antonino, Italian physician, 1872-1950. Carini syndrome - skin disease of the newborn characterized by fissures and shedding of membrane encasing the body to reveal red skin underneath. [medical-dictionary.thefreedictionary.com]

J Coll Physicians Surg Pak. 2015 Aug. 25 (8):621-2. [Medline]. Liu JJ, Yuan YY, Zhang XQ, Li ZM, Xu YS, Gao SM, et al. [emedicine.medscape.com]

If there is a doubt physician may test for skin biopsy. For early diagnosis pregnant mother can undergo ultra sound. [skin-diseases-and-skin-care.imedpub.com]

This may result in feeding difficulties. •Nose: Nasal hypoplasia and eroded nasal alae may occur. •Extremities: The limbs are encased in the thick, hyperkeratotic skin, resulting in flexion contractures of the arms, the legs, and the digits. [flipper.diff.org]

The postnatal period is usually complicated by respiratory distress, dehydration, electrolyte imbalance, temperature instability, feeding problems and bacterial infections, often with fatal consequences. [genedx.com]

•Respiratory status: Restriction of chest-wall expansion can result in respiratory distress, hypoventilation, and respiratory failure. •Hydration status: Dehydration from excess water loss can cause tachycardia and poor urine output. [flipper.diff.org]

Harlequin ichthyosis is fatal due to severe movement restriction and respiratory distress caused by thick hard cornified skin [ 1 ]. [karger.com]

mild ectropion Hepatic cirrhosis, myopathy, short stature NA ID-46 Birth F Yes c 29 yrs Erythroderma, small whitish scales, reticulated skin on joints, scales on the scalp, PP ( ), mild ectropion Hepatic cirrhosis, myopathy NA In the group of ARCI, [ojrd.biomedcentral.com]

This study was supported by the Centre National de Génotypage (CNG), the Association Française contre les Myopathies (AFM) and Généthon. * To whom correspondence should be addressed. [hmg.oxfordjournals.org]

• Anatomical changes like small head and deformed nose are seen [ 4 ]. • Hyperkeratosis [ 5 ]. • Limitation of joint mobility. • Cataract. • Dehydration [ 5 ]. • Foot and hand poly dactyly [ 5 ]. • Malignant hyper thalamia. • Self injurious behaviour [skin-diseases-and-skin-care.imedpub.com]

Alopecia, thickening of the skin on palms and soles, and heat intolerance are common. In lamellar ichthyosis, babies are born with a taut, translucent collodion membrane that encases the body and may cause ectropium and eclabium. [genedx.com]

[…] curiosity, to describe many novel aspects within the field of ichthyosis, and I took pride in coauthoring papers on new items such as cryptorchidism as a fea ture associated with X-linked recessive ichthyosis, autosomal dominant lamellar ichthyosis, and alopecia [books.google.de]

Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp, often accompanied by severe heat intolerance and recurrent ear infections. [medical-dictionary.thefreedictionary.com]

Cryptorchidism Testicular cancer Lamellar ichthyosis (an autosomal recessive congenital ichthyosis) Autosomal recessive 1:300,000 Birth Large, coarse, sometimes fine Variable palm and sole changes Most of body Ectropion Hypohidrosis with heat intolerance Alopecia [merckmanuals.com]

Disease course ranges from very mild to severe, latter entailing ectropion, eclabium, scarring supraciliary and scalp alopecia, and palmoplantar hyperkeratosis 11. [f1000research.com]

Showing of 8 5%-29% of people have these symptoms Clubbing Clubbing of fingers and toes 0001217 Leukonychia White discoloration of nails 0001820 Percent of people who have these symptoms is not available through HPO Abnormality of abdomen morphology 0001438 [rarediseases.info.nih.gov]

She also had leukonychia, clubbing of nails, and deformation of the second phalange of hands and feet. None of the patients presented erythema or extracutaneous symptoms, which are associated with ichthyosis in some syndromes. [hmg.oxfordjournals.org]

Identify challenging types of skin cancer, including cutaneous lymphomas and melanocytic lesions, as well as non-neoplastic skin diseases such as panniculitis; drug eruptions, including reactions to newer chemotherapeutic agents; infectious diseases; [books.google.com]

Patient's parent gave a history of delayed eruption of his milk teeth. The boy was born to a consanguineous couple as a collodion baby. [ijpd.in]

Overview A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes. [checkorphan.org]

(See Atlas 2, Part K.) ichthyosis linea ris circumflex a a congenital autosomal recessive disorder present at birth, characterized by the presence of generalized redness and scaling of the skin associated with migratory lesions and hyperhidrosis of the [medical-dictionary.thefreedictionary.com]