Results 41 to 50 of about 530 (127)

A rare case report on colloidion baby syndrome with severe ectropion in neonates

, 2016
Colloidion baby is a name given to baby born yellow, scaly wax like covering the baby. It is also known as lamellar icthyosis and is an inherited disorder present through birth. The disorder is a social stigma to the society.
Bhatia, Manvi, Kumar, Prashant
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Congenital Lamellar Icthyosis (Collodion Baby)

, 2011
Lamellar ichthyosis, also known as ichthyosis lammellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people the images of this rare variety of skin disorder has been presented here.
B Baghel
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Sjögren Larsson syndrome: A case study with unique mutation

Brain Disorders
Background: Sjogren–Larsson syndrome (SLS) is an autosomal recessive disorder characterized by the triad of ichthyosis, intellectual disability, and spastic quadriplegia or diplegia.
Raidah Albaradie, Dana Aljamea, Deeba Noreen Baig, Shahid Bashir   +3 more
doaj   +1 more source

Ictiose Congênita: Relato de Caso: congenital icthyosis: case report

, 2021
A ictiose congênita (bebê arlequim) é uma desordem rara, autossômica recessiva, caracterizada por espessamento cutâneo excessivo, com a presença de grandes placas de pele separadas por fissuras profundas, especialmente em áreas de flexão.
Lopes Miralha, Alexandre, Siqueira Cordeiro, Lorena, dos Santos Júnior, Francisco Rafael, Coutinho Batista, Vera Lúcia   +3 more
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Phosphorylation of Epidermal Keratins

, 1980
When human and rat epidermis are exposed to 32P-orthophosphoric acid, labeled phosphate is incorporated into several proteins. The pattern of phosphorylation is identical whether the isotope is delivered in vivo or in vitro.
Freedberg, Irwin M., Gilmartin, Mary E., Culbertson, Virginia B.   +2 more
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Importance of therapeutic patient education in icthyosis: results of a prospective single reference center study.

, 2013
International audienceBACKGROUND: Ichthyoses are a heterogeneous group of rare genodermatoses. Patients and their families face difficulties related to daily care and management that may be aggravated by social isolation.ObjectivesTo evaluate the impact ...
Smail Hadj-Rabia, Helene Dufresne, Hadj-Rabia, Smail, Christine Bodemer, Taïeb, Charles, Bodemer, Christine, Dufresne, Helene, Charles Taïeb   +7 more
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Icthyosis, Spastic Diplegia and Retinopathy

, 1979
Dermatological and psychomotor abnormalities; Severe retardationA 5-year old female with dermatological and psychomotor abnormalities. Family history significant for a younger sibling with identical conditions.
F. C. Chu, MD; W. G. Robison, MD; T. Kuwabara, MD; D. G. Cogan, MD
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Ponatinib Induced Pityriasis Rubra Pilaris: Case Report and Review of Literature. [PDF]

Indian Dermatol Online J, 2023
Jain S, Bhandari A, Vinay K, Chatterjee D.   +3 more
europepmc   +1 more source

Youngest netherton patient with infantile asthma.

, 2008
Netherton syndrome is a very rare disorder characterized with icthyosis, atopy, bamboo hair and intermittant aminoaciduria. The specifity of clinical and histopathological features of netherton syndrome is low in neonates and young infants who presents ...
Bakirtaş, Arzu, Oztaş, MURAT ORHAN, Kutsal, Ebru, Dursun, Ayşe, Gücüyener, Kivilcim, Eldeş, Nilüfer   +5 more
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Hypogonadism evaluation: clinical examination is the key. [PDF]

BMJ Case Rep, 2023
Karthik V, Jabbar PK, Roshan R, Basheer S.   +3 more
europepmc   +1 more source