Cutaneous lymphatic malformations in disappearing bone (Gorham-Stout) disease: A novel clue to the pathogenesis of a rare syndrome.

Cutaneous lymphatic malformations in disappearing bone (Gorham-Stout) disease: A novel clue to the pathogenesis of a rare syndrome.

J Am Acad Dermatol. 2006 Sep 14

Bruch-Gerharz D,
Gerharz CD,
Stege H,
Krutmann J,
Pohl M,
Koester R,
Ruzicka T.
From the Departments of Dermatology.

BACKGROUND: Gorham-Stout disease is an unusual, progressive syndrome of unknown etiology characterized by mono- or polyostotic osteolysis most often affecting children and young adults. The onset is insidious and the disease progresses to extensive and potentially disabling osteolysis often unresponsive to therapeutic intervention. Although bone and soft tissue lesions are the most frequent manifestations of Gorham-Stout disease, skin lesions can occur and may provide a clue to the pathogenesis of this rare syndrome.

OBJECTIVE: Our aim was to describe characteristics of vascular skin lesions of this rare condition using magnetic resonance imaging and histomorphological analysis.

METHODS: The case of a 36-year-old man with Gorham-Stout disease of the left leg and foot is reported.

RESULTS: This case was remarkable for its prominent lymphatic vascular malformations involving the skin and soft tissues adjacent to the diseased bone-a previously undescribed abnormality, which preceded osteolysis for several years. Magnetic resonance imaging played a key role in defining the extent of disease in skin and soft tissues.

LIMITATIONS: It is difficult to assess the true incidence of hemangiomatosis in the earlier reports on Gorham-Stout disease in which hemangiomatous cutaneous lesions were mentioned but not described or illustrated.

CONCLUSION: A vascular process with angiomatous histological features is considered to be the pathological hallmark of Gorham-Stout disease, but the specific type of this vascular process is still under debate. Our report highlights a lymphatic malformative nature of Gorham-Stout disease, thereby contributing to a better understanding and characterization of this rare disease entity.

Science Direct

Hereditary versus Spontaneous Cancer

Hereditary Versus Spontaneous Cancer

By Amy Adams, MS

Reviewed by Miriam Komaromy, MD

Last updated March 26, 2001

Cancers are the result of mutations in genes. However, in hereditary cancer some of these mutations are inherited, and in sporadic cancer of the mutations occurred spontaneously.

Sporadic Cancer

In people with sporadic cancer, certain cells in their body developed mutations that led to cancer.

Most cancers are considered sporadic. In people who have sporadic cancer, they did not inherit cancer-causing mutations from their parents. Instead, certain cells in their body developed mutations that led to cancer. These mutations can be caused by sun (which can lead to skin cancer), exposure to radiation or some chemicals, or even random events within the cell.Cancer-causing mutations generally interrupt the function of genes that either keep the cell dividing at a normal rhythm or prevent mutations from accumulating. It usually takes more than one mutation to cause cancer. But if the first mutation occurs in a gene that repairs or prevents other mutations, then additional changes can quickly accumulate. Eventually, the cell has enough mutations that it begins to divide out of control. When this happens, the cell divides rapidly and forms a mass called a tumor. Only the cells within the tumor contain the spontaneous mutations.Researchers are starting to identify genes that are commonly mutated in sporadic cancers. These studies can tell a doctor important things about how the sporadic cancer develops and how it will respond to treatment. However, finding these genes does not provide any information about a person's hereditary cancer risk or the risk of other members of their family.

Hereditary Cancer

In sporadic cancer, only the tumor cells have mutations. In hereditary cancer, every cell in the person's body has a mutation.

People with hereditary cancer inherit a mutated gene from their parents. Every cell in the person's body contains the mutation. Most importantly, cells of the ovaries and testes – which make the sperm and eggs – contain the mutation and can pass that altered gene along to children.It generally takes more than just one mutation to cause cancer. But people who have inherited a mutation are one step closer to cancer than those who haven't. Eventually, additional mutations accumulate in a cell, and that cell begins dividing quickly to form a tumor. In the case of hereditary cancer, the tumor cells usually contain some mutations that aren't found in the rest of the body, but also contain one critical mutation that every cell shares. Because these people were born with a cancer-related mutation, they are more likely to develop cancer and to develop it at a young age than are people who do not inherit a mutation.The genes that cause hereditary cancer are often the same ones that are mutated in sporadic cancers. For example, people with the hereditary cancer syndrome called Li-Fraumeni have a mutation in a gene called p53. Mutations in p53 are also commonly found in sporadic cancers. Again, the difference is that people with sporadic cancers can't pass their mutated p53 gene on to their children, whereas people with Li-Fraumeni can.

Familial Cancer

Familial cancer is caused by a mixture of environmental factors and genetics.

People with familial cancer have one or more cases of cancer in their family, and are at slightly increased risk of developing cancer themselves. However, researchers aren't sure how much of familial cancer is caused by genes, and how much is caused by environmental factors such as diet and exercise.Researchers think that familial cancer may be influenced by as-yet-unidentified genes, whose effects are not fully understood. As with hereditary cancer, these mutations are in every cell of a person's body. But unlike hereditary cancer, carrying mutations in these genes poses only a slight risk of developing cancer.

References

Kinzler, K. and Vogelstein, B. (1996). Lessons from hereditary colorectal cancer. Cell 87: 159-170.Li, F.P. and Fraumeni, J.F. Jr. (1969). Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med. 71(4):747-52.Shattuck-Eidens D. et al. (1997). BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA. 278(15):1242-50.

Genetic Health

Scrotal Lymphangioma

Scrotal Lymphangioma

Cystic lymphangioma. Our experience

2006

[Article in Spanish]
Arzoz Fabregas M,
Ibarz Servio LL,
Areal Calama J,
Gonzalez Satue C,
Ruiz Dominguez J,
Saladie Roig JM.

Servicio de Urologia, Hospital Universitari Germans Trias I Pujol, Badalona, Barcelona. 37031maf@comb.es

OBJECTIVE: To comment on the most relevant aspects and to review the literature on this unusual pathology.

MATERIAL AND METHODS: We present two cases of cystic lymphangioma, their clinical, diagnosis, therapy and development, and we review the actual literature. The first case is a young man with the diagnosis of cystic lymphangioma of the scrotum and pelvis. The second case is one patient with a cystic lymphangioma of the retroperitoneum.

DISCUSSION: Cystic lymphangioma is a congenital lymphatic hamartoma of the lymphatic system that usually appears at childhood like a big mass at soft tissues that has a tendency to grow unless a completed excision is performed.

CONCLUSIONS: There are few cases of scrotal cystic lymphangioma in the literature; they are often misdiagnosed as other common cystic scrotal conditions leading to an improper surgical approach and an incomplete surgery that predisposes later recurrence. Cystic lymphangioma of the retroperitoneum is a rare entity diagnosis in most cases as an incidentaloma.

PMID: 17058620 [PubMed - in process]

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Scrotal lymphangioma - a rare cause of acute scrotal pain in childhood

Nov 2006

[Article in German]
Hacker A,
Hatzinger M,
Grobholz R,
Alken P,
Hoang-Bohm J.

Urologische Klinik und.

INTRODUCTION:

Scrotal lymphangioma is a rare differential diagnosis in boys with acute scrotal pain.

CASE REPORT:

A 5-year-old boy presented with acute scrotal pain and swelling. Physical examination demonstrated an unusual cystic scrotal mass with a normal testis. Ultrasound and MRI showed a complex septated cystic mass. The tumor was excised completely via an inguinal and scrotal approach. 2-year follow-up examinations with physical examination and ultrasound have shown no evidence of recurrence.

CONCLUSIONS:

Scrotal lymphangiomas are commonly misdiagnosed preoperatively. When ymphangioma is suspected, ultrasound and MRI imaging of the adjacent inguinal, perineal and pelvic region should be performed. To prevent recurrence, complete surgical excision is mandatory.

Article

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CO2 laser ablation of lymphangioma circumscriptum of the scrotum.

2006

Treharne LJ,
Murison MS.

The Welsh Centre for Burns and Plastic Surgery, Morriston Hospital, Swansea, United Kingdom. linda@lindatreharne.wanadoo.co.uk

Lymphangioma circumscriptum (LC) is an uncommon skin condition characterized by large muscular-coated lymphatic cisterns that lie deep with in the subcutaneous tissue and communicate with dilated dermal lymphatics. Patients suffer from edema and lymphatic leakage. Surgical excision and reconstruction is the gold standard for therapy. However, this can be mutilating. The authors present a patient who suffered widespread disease of his scrotum who had excellent symptomatic relief by treatment with the CO(2) laser.

Article