Biomaterial Database

Richner-Hanhart's syndrome. Electron microscopic study of the skin lesion. 1990

N Shimizu, and M Ito, and K Ito, and A Nakamura, and Y Sato, and T Maruyama

Department of Dermatology, University School of Medicine, Niigata, Japan.

The plantar hyperkeratotic skin lesion in a case of Richner-Hanhart's syndrome was investigated using ultrastructural examination. Light microscopic examination showed remarkable hyperkeratosis and some aberrant keratinocytes with multiple nuclei. On ultrastructural examination, some abnormal structures were seen in the affected keratinocytes: aggregations of tonofilaments and intracytoplasmic inclusions. The inclusions were needle shaped and were considered to be "crystal ghosts," presumably of tyrosine. The formation of tyrosine crystalline inclusions seems to be an important factor in the pathogenesis of the cutaneous lesions in Richner-Hanhart's syndrome.

UI	MeSH Term	Description	Entries
D007645	Keratoderma, Palmoplantar	Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).	Hyperkeratosis Palmaris et Plantaris,Keratosis Palmaris et Plantaris,Keratosis, Palmoplantar,Meleda Disease,Palmoplantar Keratoderma,Keratosis Palmoplantaris Transgradiens of Siemens,Mal de Meleda,Disease, Meleda,Keratodermas, Palmoplantar,Keratoses, Palmoplantar,Meleda, Mal de,Palmoplantar Keratodermas,Palmoplantar Keratoses,Palmoplantar Keratosis,de Meleda, Mal
D008297	Male		Males
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000592	Amino Acid Metabolism, Inborn Errors	Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.	Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D014443	Tyrosine	A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin.	L-Tyrosine,Tyrosine, L-isomer,para-Tyrosine,L Tyrosine,Tyrosine, L isomer,para Tyrosine