Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples.

@article{Cohen1995MiscellaneousGB,
  title={Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples.},
  author={Philip R. Cohen and Razelle Kurzrock},
  journal={Dermatologic clinics},
  year={1995},
  volume={13 1},
  pages={
          211-29
        }
}
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43 Citations
Background Citations
6
Methods Citations
1

43 Citations

Birt–Hogg–Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms
TLDR
The skin lesions associated with BHD are reviewed, lung and renal manifestations associated with this syndrome are presented, and malignancies occurring in these patients are summarized.
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.
TLDR
Identification of the gene for BHD may reveal a new genetic locus responsible for renal neoplasia and for lung and hair-follicle developmental defects and is associated with a number of diseases.
Premalignant conditions of the pancreas
TLDR
This review will include the recently proposed new nomenclature and classification system for intraepithelial neoplasia in the pancreatic ducts, an overview of the various familial syndromes that are associated with an increased risk of pancreatic tumours, the surveillance programmes that have been introduced to monitor such families, and methods for early diagnosis.
Hereditary multiple fibrofolliculomas, trichodiscomas and acrochordons: syndrome of Birt-Hogg-Dubè.
Acrochordons are not a component of the Birt-Hogg-Dubé syndrome: does this syndrome exist? Case reports and review of the literature.
TLDR
It is concluded that fibrofolliculoma, trichodiscoma, and the acrochordon-like lesions are histologic variations of a single lesion, and whether the term "syndrome" is valid is questioned.
Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome
  • R. Sijmons
  • Medicine
    Hereditary cancer in clinical practice
  • 2008
TLDR
The purpose of presenting this encyclopaedia in paper format is simply that it is hoped that clinicians and researchers find it helpful to browse through it and familiarize yourself even better with the scope of genetic disorders that have been associated with increased tumour risk.
Rhabdomyosarcoma: new windows of opportunity.
TLDR
The next generation of Children's Oncology Group studies will evaluate the efficacy of topoisomerase-I inhibitors and dose-compression therapy approaches, and new advances in molecular characterization of tumors, including gene-expression analysis, hold the promise of revolutionizing risk-based therapies.
Chromophobe renal cell carcinoma: Comprehensive analysis of 11 cases
TLDR
A favorable outcome for the chRCC subtype with little local aggressiveness and a low propensity for progression and death from cancer is confirmed.
SUPERNUMERARY NIPPLES IN CHILDREN WITH HEMATOLOGIC DISORDERS
TLDR
The authors would like to draw attention to the association of supernumerary nipples with hematological disorders, which has not been published before and is considered to be added to the anomalies associated with supern numerary nipples.
Soft tissue sarcomas of childhood.
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References

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TLDR
The FAMMM syndrome not only indicates a potential for CMM, but a susceptibility to other systemic cancers as well, and merit a painstaking evaluation of cancer of all anatomical sites in other kindreds showing the FAMMM Syndrome.
Congenital gastric teratoma in Wiedemann-Beckwith syndrome.
TLDR
A congenital gastric teratoma in a newborn boy with classical WBS may represent either a tumor or an included twin and its implications for the association of WBS with neoplasia and monozygotic (MZ) twinning are discussed.
Pancreatic Cancer and the Familial Atypical Multiple Mole Melanoma (FAMMM) Syndrome
TLDR
This work has studied a kindred with a cancer-associated genoder-matosis known as familial atypical multiple mole melanoma (FAMMM) syndrome (hereditary dysplastic nevus syndrome), which may account for as much as 10% of the total malignant melanoma burden.
Incontinentia pigmenti, a chromosomal instability syndrome, is associated with childhood malignancy
TLDR
The chromosomal instability seen with IP may increase the risk for malignancy in young children, and a case report of an infant with IP and malignancies is presented, and five previously reported cases of this association are reviewed.
Keratin pattern of acanthosis nigricans in syndromelike association with polythelia, polycystic kidneys, and syndactyly.
TLDR
A patient affected with a syndromelike AN subtype including disturbed epidermopoiesis is presented as evidenced by immunohistologic findings and in situ hybridization, characterized by a particular epidermal pattern of moderate hyperproliferation.
Congenital Pancreatoblastoma in Beckwith Wiedemann Syndrome
TLDR
A male newborn who died at age 12 days with a clinical history of persistent hypoglycemia and polycythemia was presented, consistent with the diagnosis of Beckwith-Wiedemann syndrome (EMG syndrome) and hemihypertrophy, and an intraabdominal tumor was a cystic pancreatoblastoma attached to the anterior surface of the pancreas.
Malignant melanoma and a squamous cell carcinoma in recessive dystrophic epidermolysis bullosa.
TLDR
A case of RDEB-associated cutaneous malignant melanoma and SCC that was negative for known human papilloma virus DNA sequences by the polymerase chain reaction is reported.
Familial atypical multiple mole-melanoma (FAMMM) syndrome: segregation analysis.
TLDR
Although there was an apparent excess of carcinoma of the lung, pancreas, and breast, the number of family members studied with specific organ cancer was too small; therefore, a larger sample size will be needed to verify this apparent excess.
The Epidermal Nevus Syndrome
TLDR
The epidermal nevus syndrome may be considered one of the neurocutaneous syndromes, which include neurofibromatosis, SturgeWeber (encephalotrigeminal angiomatosis), tuberous sclerosis, Lindau-von Hippie (hemangioblastoma of the cerebellum and retina), and ataxia telangiectasia.
Congenital epidermolytic hyperkeratosis associated with multiple malignancies
TLDR
What is believed to be a unique case of a patient with congenital epidermolytic hyperkeratosis (bullous ichthyosiform erythroderma) who developed squamous cell carcinoma with lymph node metastases, basal cell carcinomas and breast carcinoma is presented.
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