Thirdly, the girl had mild mental retardation, epileptic seizure that happened frequently during the first year, impaired temperature regulation (hyperthemia) and increased susceptibility to infection. [ijdvl.com]

It includes immunodeficiency in its phenotype, and patients have an increased susceptibility to infections as a consequence of neutropenia. The gene maps to 5q14.1. [plasticsurgerykey.com]

The epileptiform seizure was always accompanied by hyperthermia, frequently over 40 C. Anticonvulsant therapy has been used for controlling this seizure for one year. She had a history of repeated infections. [ijdvl.com]

Of the six affected individuals examined by us, two had cancer: a 62-year-old man in family 1 had developed two primary melanomas and a pharyngeal carcinoma, and a 42-year-old woman in family 2 had developed thyroid carcinoma. [ncbi.nlm.nih.gov]

Thymic Aplasia (DiGeorge Syndrome) Immune deficiency T-Cell Deficiency Failure of development of the 3 rd and 4 th Pharyngeal Pouches ------ agenesis of the thymus and parathyroid glands. T-Cell deficiency from no thymus. [kumc.edu]

Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae [orpha.net]

Clinical signs consist of progressive diffuse, partly blotchy hyperpigmented lesions, multiple café-au-lait spots, intermingled with scattered hypopigmented-appearing maculae, and lentigines. [ncbi.nlm.nih.gov]

Clinical signs consist of progressive diffuse, partly blotchy hyperpigmented lesions, multiple cafe'-au-lait spots, intermingled with scattered hypopigmented-appearing maculae and lentigines. [ijdvl.com]

Clinical signs consist of progressive Diffuse, partly blotchy Hyperpigmented lesions, Multiple café-au-lait spots, intermingled with Scattered hypopigmented-appearing maculae, and lentigines [15]. [gulfdoctor.net]

CNS degeneration, retardation, cherry red-spot of macula, blindness (amaurosis). Death before age 4. Albinism Nitrogen Metabolism Defect Autosomal Recessive. Tyrosinase deficiency ------ inability to synthesize melanin from tyrosine. [kumc.edu]

Back to: « Hyperpigmentation Symptoms of Familial progressive hyperpigmentation with or without hypopigmentation Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of the integument Cafe-au-lait spot Hyperkeratosis Hypermelanotic [familydiagnosis.com]

'-au-lait spots, a single amino-acid change in KITLG was reported. [ijdvl.com]

The arrows denote the margin of a large and fading cafe-au-lait spot on his thigh (a). 218 Hoo and Shrimpton [docslide.net]

The arrows denote the fewlargeand faint cafe-au-lait spots onhis left chest (a) andonhis lumbar region(b). [myslide.es]

Hyperpigmentation Symptoms of Familial progressive hyperpigmentation with or without hypopigmentation Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of the integument Cafe-au-lait spot Hyperkeratosis Hypermelanotic macule Hypopigmented [familydiagnosis.com]

DUH is characterized by sharply demarcated brown macules of various sizes on diffusely hypopigmented skin, typically involving the head, anterior chest, abdomen and extremities mostly without involvement of palms and soles. [ijdvl.com]

The hair shafts show uneven clusters of aggregated melanin pigment, mainly in the medulla. 315 ELEJALDE SYNDROME The Elejalde syndrome (OMIM 256710) is a rare autosomal recessive disorder characterized by the triad of silvery hair, hypopigmented skin [plasticsurgerykey.com]

Also, over time, melanocytes may produce more pigment and differences between normal and hyperpigmented or hypopigmented skin may become more evident. [clinicalgate.com]

patches Progressive hyperpigmentation Vitiligo Types of Familial progressive hyperpigmentation with or without hypopigmentation Some types of this condition may include: 3 Types of Familial progressive hyperpigmentation with or without hypopigmentation [familydiagnosis.com]

The longest persistence time of a generalized seizures exceeded 10 h. The epileptiform seizure was always accompanied by hyperthermia, frequently over 40 C. Anticonvulsant therapy has been used for controlling this seizure for one year. [ijdvl.com]