hyperpigmentation/crise épileptique

Le lien est enregistré dans le presse-papiers

Des articles Essais cliniquesBrevets

Choisissez le type de tri

Page 1 de 51 résultats

Linear and whorled nevoid hypermelanosis associated with developmental delay and generalized convulsions.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

[Neonatal seizures revealing incontinentia pigmenti].

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Incontinentia pigmenti (IP) is a rare affection inherited as X-linked dominant disease. It is usually lethal in male infants. IP can affect ectodermal tissues such as the skin, teeth, eyes, bones, and the central nervous system. Skin lesions occur mostly during the neonatal period and are

Familial progressive hypo- and hyperpigmentation: a variant case.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Familial progressive hyper- and hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation with variable intensity. Cafe'-au-lait macules and larger hypopigmented ash-leaf macules are also present. Herein, we reported a variant case of FPHH. The patient was a two-year-old Chinese girl

Familial glucocorticoid deficiency presenting with hyperpigmentation, gigantism, and motor development delay: a case report.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency. Most patients are diagnosed following episodes of hypoglycemia or convulsion. We report the case of an infant with familial glucocorticoid deficiency who

Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in an Egyptian child: a case report.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

BACKGROUND Familial glucocorticoid deficiency, or hereditary unresponsiveness to adrenocorticotropic hormone, is a rare autosomal recessive disease characterized by glucocorticoid deficiency in the absence of mineralocorticoid deficiency. It may present in infancy or early childhood with

Epidermal nevus syndrome with hypermelanosis and chronic hyponatremia.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Epidermal nevus syndrome is seldom encountered, and its association with hypermelanosis and the chronic syndrome of inappropriate antidiuretic hormone secretion (SIADH) has never been reported. A male neonate who developed intractable seizures and hyponatremia soon after birth is reported. He had

A Pilot Study Evaluating Therapeutic Response of Different Dosage of Oral Glucocorticoid in Two Children with Familial Glucocorticoid Deficiency Presenting with Diffuse Mucocutaneous Hyperpigmentation.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

BACKGROUND Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive potentially life-threatening condition, characterized by glucocorticoid deficiency, preserved aldosterone/renin secretion, and secondary rise in plasma adrenocorticotropic hormone level. This occurs due to either

Proteus Syndrome with Neurological Manifestations: A Rare Presentation.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Proteus syndrome (PS) is an extremely rare and complex disorder. Approximately 200 cases have been reported, and it seems to affect people of all ethnic and racial groups. PS is characterized by segmental overgrowth of multiple tissues and organs including vascular malformations, lipomatous

A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Allgrove syndrome (OMIM 231550) is a rare autosomal recessive disease characterized by non-CAH primary adrenal insufficiency (non-CAH PAI), alacrima, and achalasia. It is caused by mutations in the AAAS gene. The syndrome is also associated with variable progressive neurological

Hypotonic infant with Pallister-Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Pallister-Killian syndrome (PKS) is a rare genetic developmental disorder characterized, by intellectual disability, seizures, streaks of hypo- or hyperpigmentation and characteristic dysmorphic features. PKS is characterized by the presence of cytogenetic abnormality in form of a supernumerary

Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency. Mutations in the ACTH receptor (melanocortin 2 receptor, MC2R) or the MC2R accessory protein (MRAP) cause FGD types 1 and 2, respectively. A 2-year-old adopted Chinese

Café noir spots: A Feature of Familial Progressive Hyper- and Hypopigmentation.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis characterized by multiple café au lait spots and hypopigmented ash-leaf macules intermingled with blotchy hyperpigmentation (1,2). Herein, we describe a Turkish FPHH patient with café-noir spots. A 16-year-old male

Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Familial glucocorticoid deficiency type 1 (FGD1) is an autosomal recessive disorder caused by mutations in the melanocortin 2 receptor (MC2R) gene, characterized by a low or undetectable serum cortisol level and a high adrenocorticotropic hormone (ACTH) level. Clinical manifestations include

[Two neonates with vesicular skin lesions due to incontinentia pigmenti].

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

In two neonate girls with vesicular skin lesions, incontinentia pigmenti (Bloch-Sulzberger syndrome) was diagnosed. This rare X-linked dominant ectodermal disease can cause abnormalities in several organ systems. Most prominent are the dermatological abnormalities, developing in 4 stages: the

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

X-linked dominant Conradi-Hunermann-Happle syndrome (CDPX2; MIM 302960) is a rare chondrodysplasia punctata primarily affecting females. CDPX2 is presumed lethal in males, although a few affected males have been reported. CDPX2 is a cholesterol biosynthetic disorder due to

Rejoignez notre
page facebook

Herbal & Natural Medicine

La base de données d'herbes médicinales la plus complète soutenue par la science

Fonctionne en 55 langues
Cures à base de plantes soutenues par la science
Reconnaissance des herbes par image
Carte GPS interactive - étiquetez les herbes sur place (à venir)
Lisez les publications scientifiques liées à votre recherche
Rechercher les herbes médicinales par leurs effets
Organisez vos intérêts et restez à jour avec les nouvelles recherches, essais cliniques et brevets

Tapez un symptôme ou une maladie et lisez des informations sur les herbes qui pourraient aider, tapez une herbe et voyez les maladies et symptômes contre lesquels elle est utilisée.
* Toutes les informations sont basées sur des recherches scientifiques publiées