Results 151 to 160 of about 5,748 (201)

The Tay syndrome (congenital ichthyosis with trichothiodystrophy)

European Journal of Pediatrics, 1984
We report a 5-year-old boy affected with the Tay syndrome, and give a review of 12 pertinent cases previously reported under various designations. The Tay syndrome is a distinct type of congenital ichthyosis characterized by a peculiar anomaly of hair growth which has been termed trichothiodystrophy. The hair shafts are extremely brittle, and they show
Alfredo Rebora, Rudolf Happle, H Traupe   +2 more
exaly   +3 more sources

Congenital ichthyosis in a llama

Journal of the American Veterinary Medical Association, 1990
A 1-month-old male cria was examined because of diffuse hyperkeratosis and conjunctivitis that had existed since birth. The mucocutaneous junction of the nostrils as well as the neck, coronary bands, and axillary and inguinal regions were the most severely affected areas. Orthokeratosis involving the epidermis and follicular infundibula was observed on
E B, Belknap, R W, Dunstan
openaire   +2 more sources

Congenital Ichthyosis and Medulloblastoma

Dermatologica, 2009
Occurrence of ichthyosis and malignancy together is unusual. An 18-year-old patient suffering from congenital ichthyosis was found to have a medulloblastoma of cerebellum. A short review of the literature of cases of tumors with ichthyosis, and neurological syndromes with ichthyosis is presented.
openaire   +2 more sources

Biologics in congenital ichthyosis: are they effective?

British Journal of Dermatology
Abstract Background Congenital ichthyoses comprise a heterogeneous group of genetic diseases that require lifelong treatment and have a major impact on patients’ quality of life. Conventional treatments reduce scaling and skin discomfort; however, they usually have little or no effect on erythema and ...
Mazereeuw-Hautier, Juliette, Granier Tournier, Céline, Hernandez-Martin, Angela, Milesi, Sarah, Texier, Hélène, Severino-Freire, Maëlla, Bellon, Nathalia, Bodemer, Christine, Gruber, Robert, Mahé, Emmanuel, Morice Picard, Fanny, Hannula-Jouppi, Katariina, Murase, Jenny, Barbarot, Sébastien, Cohen-Barak, Eran, Torres-Pradilla, Maurico, Bruckner, Anna, Levy, Moise, Koh, Mark, Masson Regnault, Marie, Rossel, Vanya, Chiaverini, Christine, Arkin, Lisa, Ott, Hagen, Has, Cristina, Süβmuth, Kira, Gostynski, Antoni, Shourick, Jason, Paller, Amy   +28 more
openaire   +5 more sources

Congenital Unilateral Ichthyosis in a Newborn

Archives of Pediatrics & Adolescent Medicine, 1979
Ichthyosiform erythroderma is a rare phenomenon occurring in about 1/300,000 live births. Congenital unilateral ichthyosis, described in this case report, is a clinical variant of ichthyosis. Only five previous cases have been reported. In the patient described in this report, superimposed infection of the affected skin developed.
P J, Lipsitz, F, Suser, S, Weinberg, E, Valderrama   +3 more
openaire   +2 more sources

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms [PDF]

Journal of Dermatological Science, 2006
Autosomal recessive congenital ichthyoses (ARCI) include several severe subtypes including harlequin ichthyosis (HI), lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma.
Masashi Akiyama
exaly   +2 more sources

Congenital ichthyosis: report of two cases of hariequin ichthyosis

The Indian Journal of Pediatrics, 1984
Two neonates, a girl and a boy, with classical features of harlequin ichthyosis are documented with brief review of literature.
L S, Arya, M H, Jawadi, G N, Aram, M I, Fazal, M, Singh   +4 more
openaire   +2 more sources

Ichthyosis prematurity syndrome: A well-defined congenital ichthyosis subtype

Journal of the American Academy of Dermatology, 2008
Ichthyosis prematurity syndrome is a rare syndrome characterized by the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. We describe two siblings with ichthyosis prematurity syndrome. The index patient was born at gestational week 34.
Bygum, Anette; id_orcid 0000-0002-3004-0180, Westermark, Per, Brandrup, Flemming   +2 more
openaire   +2 more sources

Cataract Associated with Congenital Ichthyosis

Archives of Ophthalmology, 1958
Cataract associated with congenital ichthyosis is a rare occurrence. It is the purpose of this paper to discuss this occurrence, to review the literature available, and to present two cases occurring in Japanese male siblings. The two cases were isolated instances in a family with no history of ichthyosis or cataract on either the paternal or maternal
openaire   +2 more sources