Biomaterial Database

Multiple cutaneous granular cell tumors with systemic defects: a distinct entity? 1993

L Bakos

Dermatology Service, Hospital de Clinicas, Federal University of Rio Grande do Sul, Porto Algre, Brazil.

BACKGROUND The association between cutaneous granular cell tumors and systemic defects is extremely rare, this being the tenth case reported in the literature. The reported defects in the literature include lentiginosis, face and skull alterations, heart defects, muscular and neural pathologies, among other sporadic defects in other organs. The patients do not present visceral granular cell tumors. METHODS An 11-year-old girl had 124 skin granular cell tumors associated with face and skull defects, pulmonary stenosis, EEG and other neurologic alterations, diffuse muscle hypotonia, and an excess of finger joint mobility. CONCLUSIONS The combination of multiple cutaneous granular cell tumors with repeated alterations in other organs seems to be more than simply coincidental, thus suggesting a syndromic separate entity.

UI	MeSH Term	Description	Entries
D008046	Lip	Either of the two fleshy, full-blooded margins of the mouth.	Philtrum,Lips,Philtrums
D009666	Nose	A part of the upper respiratory tract. It contains the organ of SMELL. The term includes the external nose, the nasal cavity, and the PARANASAL SINUSES.	External Nose,External Noses,Nose, External,Noses,Noses, External
D010159	Palate	The structure that forms the roof of the mouth. It consists of the anterior hard palate (PALATE, HARD) and the posterior soft palate (PALATE, SOFT).	Incisive Papilla,Incisive Papillas,Palates,Papilla, Incisive,Papillas, Incisive
D002467	Cell Nucleus	Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)	Cell Nuclei,Nuclei, Cell,Nucleus, Cell
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D003094	Collagen	A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of SKIN; CONNECTIVE TISSUE; and the organic substance of bones (BONE AND BONES) and teeth (TOOTH).	Avicon,Avitene,Collagen Felt,Collagen Fleece,Collagenfleece,Collastat,Dermodress,Microfibril Collagen Hemostat,Pangen,Zyderm,alpha-Collagen,Collagen Hemostat, Microfibril,alpha Collagen
D003593	Cytoplasm	The part of a cell that contains the CYTOSOL and small structures excluding the CELL NUCLEUS; MITOCHONDRIA; and large VACUOLES. (Glick, Glossary of Biochemistry and Molecular Biology, 1990)	Protoplasm,Cytoplasms,Protoplasms
D004547	Elastic Tissue	Connective tissue comprised chiefly of elastic fibers. Elastic fibers have two components: ELASTIN and MICROFIBRILS.	Elastic Fibers,Elastic Fiber,Elastic Tissues,Fiber, Elastic,Fibers, Elastic,Tissue, Elastic,Tissues, Elastic
D005145	Face	The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.	Faces
D005260	Female		Females