familial macrocephaly;
autosomal dominant macrocephaly;
also called Bannayan-Riley-Ruvalcaba syndrome
TI: Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome.
AU: Fargnoli-MC; Orlow-SJ; Semel-Concepcion-J; Bolognia-JL
AD: Department of Dermatology, Yale University School of Medicine, New Haven, Conn, USA.
SO: Arch-Dermatol. 1996 Oct; 132(10): 1214-8
ISSN: 0003-987X
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: BACKGROUND: The term Bannayan-Riley-Ruvalcaba syndrome has been proposed to reflect the clinical overlap of 3 conditions previously described as separate entities, each inherited in an autosomal dominant fashion. They are the Riley-Smith, Bannayan-Zonana, and Ruvalcaba-Myhre-Smith syndromes. OBSERVATIONS: We studied 2 kindreds with the Bannayan-Riley-Ruvalcaba syndrome. Characteristic cutaneous findings included multiple subcutaneous lipomas and vascular malformations, lentigines of the penis and vulva, verrucae, and acanthosis nigricans. Macrocephaly with normal ventricular size, mental retardation, central nervous system vascular malformations, intestinal polyposis, skeletal abnormalities, and thyroid tumors were the most common systemic featues. A striking clinical finding in 1 patient was widespread verrucous changes of both lips that histologically showed epidermal hyperplasia with papillomatosis and hyperkeratosis. Biopsy specimens of facial papules demonstrated the histological features of both syringomas and trichilemmomas. Lentiginous hyperplasia of the epidermis with increased pigment in the basal layer and a slight increase in the number of melanocytes were seen in biopsy specimens of the penile lentigines. CONCLUSIONS: The histologic findings of both the facial lesions and the pigmented macules of the penis in the Bannayan-Riley-Ruvalcaba syndrome have not, to our knowledge, been reported previously. The similarities between the Bannayan-Riley-Ruvalcaba syndrome and Cowden disease raise the possibility of a common genetic pathogenesis for these 2 diseases.
MESH: Abnormalities,-Multiple-genetics; Adolescence-; Adult-; Bone-and-Bones-abnormalities; Head-abnormalities; Mental-Retardation-genetics; Skin-pathology; Skin-Diseases-genetics; Skin-Diseases-pathology; Syndrome-
MESH: *Abnormalities,-Multiple; *Mental-Retardation; *Skin-Diseases
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 97012217
UD: 9701
SB: AIM
MEDLINE EXPRESS (R) 1991-1995 2 of 13
TI: The hamartomatous polyposis syndromes: clinical and radiologic features.
AU: Harned-RK; Buck-JL; Sobin-LH
AD: Department of Radiology, University of Nebraska Medical Center, Omaha 68198-1045.
SO: AJR-Am-J-Roentgenol. 1995 Mar; 164(3): 565-71
ISSN: 0361-803X
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: Most radiologists are familiar with the clinical and radiologic features of the familial adenomatous polyposis syndromes [1]. The hamartomatous polyposis syndromes occur less frequently, however, and their radiologic and clinical manifestations are not as well known. This group of syndromes includes Peutz-Jeghers, multiple hamartoma, juvenile polyposis, Cronkhite-Canada, and Bannayan-Riley-Ruvalcaba. The predominant gastrointestinal lesion in these diseases is some form of hamartomatous polyp. The term hamartoma implies a nonneoplastic tumor or tumorlike condition composed of tissue elements normally present in the particular area [2]. In many of these syndromes, it is now recognized that hamartomatous polyps of the gastrointestinal tract coexist with adenomas and that adenomas may develop within hamartomatous polyps. Either situation may contribute to the frequent association of alimentary tract adenocarcinoma that occurs in most of these syndromes. Various types of benign mucocutaneous lesions are common and often lead to the correct diagnosis. Of greater importance is the frequent occurrence of other extraintestinal manifestations, including several forms of malignant disease. Because of this frequent association with both gastrointestinal and nongastrointestinal malignant tumors, early and accurate diagnosis of these syndromes is essential. Meticulously performed double contrast studies are the preferred radiologic procedures for the diagnosis of gastrointestinal polyps in all of these diseases.
MESH: Gastrointestinal-Diseases-diagnosis; Gastrointestinal-Diseases-pathology; Gastrointestinal-Diseases-radiography; Gastrointestinal-Neoplasms-pathology; Gastrointestinal-Neoplasms-radiography; Hamartoma-pathology; Hamartoma-radiography; Hamartoma-Syndrome,-Multiple-diagnosis; Peutz-Jeghers-Syndrome-diagnosis; Polyps-pathology; Polyps-radiography; Syndrome-
MESH: *Gastrointestinal-Neoplasms-diagnosis; *Hamartoma-diagnosis; *Polyps-diagnosis
TG: Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 95168064
UD: 9505
SB: AIM
MEDLINE EXPRESS (R) 1991-1995 3 of 13
TI: Lipomatosis of the scalp and macrocephaly.
AU: Lusthaus-SN; Benmeir-P; Ashur-H; Neuman-A; Weinberg-A; Hurvitz-H; Klar-A; Gross-Kieselstein-I; Wexler-MR
AD: Department of Plastic and Reconstructive Surgery, Hadassah University Hospital, Jerusalem, Israel.
SO: Plast-Reconstr-Surg. 1995 Jan; 95(1): 130-2
ISSN: 0032-1052
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: In summary, a case of macrocephaly and lipomatosis of the scalp and forehead has been presented. The phenotypic and clinical features found in our patient are in accordance with previous reports. The differential diagnosis with other hamartoneoplastic syndromes has been evaluated and discarded, concluding that the present report is in accordance with Bannayan-Zonana syndrome. However, as in other inherited traits, finding a genetic test to diagnose this entity remains a challenge.
MESH: Child,-Preschool; Lipoma-complications; Lipoma-surgery; Scalp-pathology; Scalp-surgery; Skull-Neoplasms-complications; Skull-Neoplasms-pathology; Skull-Neoplasms-surgery
MESH: *Lipoma-pathology; *Scalp-; *Skull-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 95108152
UD: 9504
SB: AIM
MEDLINE EXPRESS (R) 1991-1995 4 of 13
TI: Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome.
AU: Fryburg-JS; Pelegano-JP; Bennett-MJ; Bebin-EM
AD: Department of Pediatrics, University of Virginia Health Sciences Center, Charlottesville 22908.
SO: Am-J-Med-Genet. 1994 Aug 1; 52(1): 97-102
ISSN: 0148-7299
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition of macrocephaly in combination with lipomas/hemangiomas, hypotonia, developmental delay, and a lipid myopathy. The etiology of the lipid storage myopathy has been unclear. We describe a black boy with findings of BRRS who also has a defect in long-chain fatty acid oxidation expressed in cultured skin fibroblasts as a deficiency of long-chain-L-3-hydroxyacyl-CoA dehydrogenase (L-CHAD). He also has an abnormal brain MRI and increased size of both lower limbs. We present this child because of his unusual combination of findings, and postulate that L-CHAD deficiency may be the cause of the lipid myopathy in BRRS.
MESH: Abnormalities,-Multiple-pathology; Hemangioma-pathology; Infant-; Lipoma-pathology; Magnetic-Resonance-Imaging; Microscopy,-Electron; Muscles-ultrastructure; Muscular-Diseases-pathology; Soft-Tissue-Neoplasms-pathology; Syndrome-
MESH: *Abnormalities,-Multiple-enzymology; *3-Hydroxyacyl-CoA-Dehydrogenases-deficiency
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
RN: EC 1.1.1.211; EC 1.1.1.35
NM: long-chain-3-hydroxyacyl-CoA-dehydrogenase; 3-Hydroxyacyl-CoA-Dehydrogenases
AN: 95068080
UD: 9502
MEDLINE EXPRESS (R) 1991-1995 5 of 13
TI: Clear cell carcinoid tumour of the stomach.
AU: Ordonez-NG; Mackay-B; el-Naggar-A; Bannayan-GA; Duncan-J
AD: Department of Pathology, University of Texas, M.D. Anderson Cancer Center, Houston.
SO: Histopathology. 1993 Feb; 22(2): 190-3
ISSN: 0309-0167
PY: 1993
LA: ENGLISH
CP: ENGLAND
MESH: Carcinoid-Tumor-metabolism; Chromogranins-metabolism; Cytoplasmic-Granules-ultrastructure; Glycogen-metabolism; Microscopy,-Electron; Middle-Age; Stomach-Neoplasms-metabolism; Vacuoles-ultrastructure
MESH: *Carcinoid-Tumor-pathology; *Stomach-Neoplasms-pathology
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
RN: 0; 0; 9005-79-2
NM: chromogranin-A; Chromogranins; Glycogen
AN: 93202616
UD: 9306
MEDLINE EXPRESS (R) 1991-1995 6 of 13
TI: Diagnostic outcome in children with multiple cafe au lait spots.
AU: Korf-BR
AD: Division of Genetics, Children's Hospital, Boston, MA 02115.
SO: Pediatrics. 1992 Dec; 90(6): 924-7
ISSN: 0031-4005
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: Forty-one children, ranging in age from 1 month to 14 years, had six or more cafe au lait spots at their initial visit and were examined annually. Signs of neurofibromatosis type 1 eventually developed in 24. The most common feature to appear to confirm the diagnosis was skin-fold freckling, which occurred in 18 subjects. Diagnosis was based on the appearance of Lisch nodules in 5, and on neurofibromas in 3. In most instances, diagnosis was established within 3 years of initial evaluation, usually before 5 years of age. Six children had a segmental distribution of cafe au lait spots, suggesting segmental neurofibromatosis. In 3, diagnoses other than neurofibromatosis type 1 were established (Bannayan-Riley-Rulvalcaba syndrome, multiple lentigines syndrome, and fibrous dysplasia). In 8 subjects only multiple cafe au lait spots are present, and no definite diagnosis has been established. It is concluded that with regular follow-up, including physical and ophthalmological examinations, a definite diagnosis, most commonly neurofibromatosis type 1, can be established for most children having multiple cafe au lait spots.
MESH: Adolescence-; Child-; Child,-Preschool; Infant-; Melanosis-diagnosis; Neurofibromatosis-1-physiopathology; Nevus-diagnosis
MESH: *Neurofibromatosis-1-diagnosis; *Pigmentation-Disorders-diagnosis
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 93065032
UD: 9302
SB: AIM
MEDLINE EXPRESS (R) 1991-1995 7 of 13
TI: Bannayan-Riley-Ruvalcaba syndrome.
AU: Gorlin-RJ; Cohen-MM Jr; Condon-LM; Burke-BA
AD: Department of Oral Science, University of Minnesota, Minneapolis.
SO: Am-J-Med-Genet. 1992 Oct 1; 44(3): 307-14
ISSN: 0148-7299
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: Here we report on 12 affected members of a family with Bannayan-Riley-Ruvalcaba syndrome. We present clinical evidence of overlap between Bannayan-Zonana syndrome. Riley-Smith syndrome, and Ruvalcaba-Myhre syndrome in this autosomal dominantly inherited condition. We expand the phenotypic spectrum to include Hashimoto thyroiditis, which occurred in 7 of our cases. Finally, we discuss the relationship between the syndrome and juvenile polyposis of infancy.
MESH: Adolescence-; Carcinoma,-Hepatocellular-genetics; Churg-Strauss-Syndrome-genetics; Lipoma-genetics; Liver-Neoplasms-genetics; Pedigree-; Syndrome-; Thyroiditis,-Autoimmune-genetics
MESH: *Carcinoma,-Hepatocellular; *Churg-Strauss-Syndrome; *Lipoma-; *Skull-abnormalities; *Thyroiditis,-Autoimmune
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93142793
UD: 9304
MEDLINE EXPRESS (R) 1991-1995 8 of 13
TI: Bannayan-Zonana syndrome associated with lipomas, hemangiomas, and lymphangiomas.
AU: Hayashi-Y; Ohi-R; Tomita-Y; Chiba-T; Matsumoto-Y; Chiba-T
AD: Department of Pediatric Surgery, Tohoku University School of Medicine, Sendai, Japan.
SO: J-Pediatr-Surg. 1992 Jun; 27(6): 722-3
ISSN: 0022-3468
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: Bannayan-Zonana syndrome is a rare disorder characterized by macrocephaly and multiple soft tissue and visceral hamartomas. This report presents a sporadic patient with macrocephaly, lipomas, hemangiomas, and lymphangiomas who died of cardiac and respiratory failure due to progressive cervicomediastinal arteriovenous fistulous hemangiomas at the age of 9 years.
MESH: Arteriovenous-Fistula; Hemangioma-; Infant-; Lipoma-; Lymphangioma-; Prognosis-; Syndrome-
MESH: *Abnormalities,-Multiple; *Hamartoma-; *Head-abnormalities; *Neoplasms,-Multiple-Primary; *Soft-Tissue-Neoplasms
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 92364768
UD: 9211
MEDLINE EXPRESS (R) 1991-1995 9 of 13
TI: Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes.
AU: DiLiberti-JH
AD: Department of Pediatrics, Saint Francis Hospital and Medical Center, Hartford, CT 06105-1299.
SO: J-Med-Genet. 1992 Jan; 29(1): 46-9
ISSN: 0022-2593
PY: 1992
LA: ENGLISH
CP: ENGLAND
AB: The muscle biopsy results from 14 children with macrocephaly and hypotonia/weakness were correlated with clinical findings compatible with any of the autosomal dominant macrocephaly syndromes. Thirteen of the 14 had evidence of lipid storage myopathy, either generalised or focal. All 13 had examinations consistent with either benign familial macrocephaly, Ruvalcaba-Myhre-Smith syndrome, or Bannayan-Zonana syndrome. These results suggest that all three of these disorders may represent phenotypic variability at a single genetic locus.
MESH: Abnormalities,-Multiple-pathology; Child-; Child,-Preschool; Infant-; Infant,-Newborn; Lipids-metabolism; Muscle-Hypotonia-genetics; Muscle-Hypotonia-pathology; Muscles-metabolism; Muscles-pathology; Phenotype-; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Muscles-abnormalities; *Skull-abnormalities
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
RN: 0
NM: Lipids
AN: 92203292
UD: 9207
MEDLINE EXPRESS (R) 1991-1995 10 of 13
TI: Translocation 19;Y in a child with Bannayan-Zonana phenotype.
AU: Israel-J; Lessick-M; Szego-K; Wong-P
AD: Section of Genetics, Rush-Presbyterian-St Luke's Medical Center, Rush University, Chicago, Illinois 60612.
SO: J-Med-Genet. 1991 Jun; 28(6): 427-8
ISSN: 0022-2593
PY: 1991
LA: ENGLISH
CP: ENGLAND
MESH: Abnormalities,-Multiple; Child-; Phenotype-; Syndrome-
MESH: *Chromosomes,-Human,-Pair-19; *Translocation-Genetics; *Y-Chromosome
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 91332868
UD: 9111
MEDLINE EXPRESS (R) 1990 11 of 13
TI: The imaging of body asymmetry and hemihypertrophy.
AU: Levine-C
AD: Department of Radiology, University of Missouri-Columbia 65212.
SO: Crit-Rev-Diagn-Imaging. 1990; 31(1): 1-80
ISSN: 1040-8371
PY: 1990
LA: ENGLISH
CP: UNITED-STATES
AB: Localized soft tissue and bone overgrowth may be the result of many different causes and will vary in severity, from involvement of a single digit to one half of the body. There are a variety of causes, including chronic lymphedema; lymphangiomatous malformations; neurofibromatosis; vascular malformations including the Klippel-Trenaunay-Weber syndrome; macrodystrophia lipomatosa; multiple enchondromatosis and Maffucci's syndrome. More recently, the Bannayan syndrome and the Proteus syndrome have been documented among the causes. Unexplained hemihypertrophy may also occur in association with intra-abdominal neoplasms. The various entities are reviewed and their radiological features described and illustrated.
MESH: Abnormalities,-Multiple-radiography; Arteriovenous-Malformations-radiography; Bone-Diseases,-Developmental-radiography; Extremities-radiography; Hemangioma-radiography; Hypertrophy-radiography; Klippel-Trenaunay-Weber-Syndrome-radiography; Lipomatosis-radiography; Lymphangioma-radiography; Lymphedema-radiography; Neurofibromatosis-1-radiography; Syndrome-
MESH: *Extremities-pathology
TG: Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 91144725
UD: 9106
MEDLINE EXPRESS (R) 1990 12 of 13
TI: Bannayan-Zonana syndrome associated with lymphangiomyomatous lesions.
AU: Klein-JA; Barr-RJ
AD: Department of Dermatology, California College of Medicine, University of California-Irvine.
SO: Pediatr-Dermatol. 1990 Mar; 7(1): 48-53
ISSN: 0736-8046
PY: 1990
LA: ENGLISH
CP: UNITED-STATES
AB: Bannayan-Zonana syndrome is an autosomal dominant condition that has not been well described in the dermatology literature. The typical case is characterized by macrocephaly, multiple angiomas, and multiple encapsulated or infiltrating lipomas. As in other autosomal dominant hamartoneoplastic syndromes, the degree of expression within one family frequently varies widely. Our patient had macrocephaly and angiomas, as well as lipomas with peculiar histologic features similar to lymphangiomyomas. Her father had a large nevus flameus on his leg, and lipomas with normal histologic appearance. The paternal grandfather had multiple encapsulated lipomas with normal histologic appearance. Neither father nor grandfather had macrocephaly.
MESH: Angiokeratoma-complications; Angiokeratoma-pathology; Child-; Hamartoma-pathology; Lymphangioma-pathology; Syndrome-
MESH: *Head-abnormalities; *Lipoma-pathology; *Neoplasms,-Multiple-Primary-pathology; *Skin-Neoplasms-pathology
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 90259901
UD: 9008
MEDLINE EXPRESS (R) 1990 13 of 13
TI: Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity [letter]
AU: Cohen-MM Jr
SO: Am-J-Med-Genet. 1990 Feb; 35(2): 291-2
ISSN: 0148-7299
PY: 1990
LA: ENGLISH
CP: UNITED-STATES
MESH: Intestinal-Polyps-complications; Syndrome-
MESH: *Eponyms-; *Head-abnormalities; *Nomenclature-
PT: LETTER
AN: 90178198
UD: 9006