Limits...
Retinoblastoma plus lipomatosis: an autosomal dominant syndrome.

Tenna S, Barone M, Gigliofiorito P, Persichetti P - Arch Plast Surg (2014)

View Article: PubMed Central - PubMed

Affiliation: Department of Plastic, Reconstructive, and Aesthetic Surgery Unit, Campus Bio-Medico University of Rome, Rome, Italy.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

A 43-year-old man, Caucasian, was admitted to our unit with a lump extending from the nape of the neck to the dorsal region between the shoulders (Figs. 1, 2)... Magnetic resonance imaging (MRI) (Fig. 3) revealed a significant thickening of the subcutaneous fat from the nape of the neck to the dorsal region between the shoulders, with two notable masses: the cranial, which measured 2.4 cm×5 cm×8 cm and the distal, in the dorsal region, 6.5 cm×12 cm×8 cm... These formations, both well-encapsulated, had homogeneous hyperintense signals in the T1- and T2-weighted sequences with a reduction of the non-homogeneous internal signal sequences obtained with the suppression of the fat signal with modest and nuanced post-contrast enhancement... A histological examination of the nuchal mass and the dorsal liposuction confirmed the tissue as benign lipoma and lipomatosis tissue... In order to document the presence of retinoblastoma, multiple endocrine neoplasia (MEN) 1 and lipomatosis were evaluated with an preoperative genetic exam to confirm the diagnosis of this rare and complex syndrome; in fact, hereditary predisposition to lipomas is observed in familial multiple lipomatosis and benign cervical lipomatosis (and can also be associated with mutations in the MEN1 and phosphatase and TENsin homolog [PTEN] genes)... The RB1 encodes the retinoblastoma protein, which is the central regulator of mammalian cell cycles, and in particular, it acts as a molecular switch of adipocyte differentiation... In addition, multiple lipomas are observed in the context of hereditary neoplastic syndromes including those associated with mutations in the MEN1 and PTEN genes... Surgical excision is still the main treatment of lipoma; Stebbins et al. state that surgical excision is the treatment of choice for small lipomas... These authors further claim that in patients with large or multiple lipomas, excision scars may result in large and numerous scars; therefore, cosmetically more acceptable approaches, such as modified incisional approaches, liposuction, and intralesional laser therapy with or without liposuction, have been successful... In addition to cosmetic surgery, liposuction is a therapeutic option in other conditions such as lipomas and lipomatosis... This procedure has been enhanced by several modifications; one of the most significant advances has been the use of the tumescent technique for removing fat... The treatment of lipomas in our patient consisted of a combined approach (surgical excision and tumescent liposuction) with excellent aesthetic results, respecting the principles of literature... An early diagnosis can help the patient to be aware of his disease, which could be transmitted to his children, despite there being no previous cases of the same disease in the family, as reported by the study of Rieder et al..

No MeSH data available.


Cosmetic outcome.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4228230&req=5

Figure 5: Cosmetic outcome.

Mentions: A histological examination of the nuchal mass and the dorsal liposuction confirmed the tissue as benign lipoma and lipomatosis tissue. The follow-up at 6 months was negative for the recurrence of the disease (Figs. 4, 5).


Retinoblastoma plus lipomatosis: an autosomal dominant syndrome.

Tenna S, Barone M, Gigliofiorito P, Persichetti P - Arch Plast Surg (2014)

Cosmetic outcome.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4228230&req=5

Figure 5: Cosmetic outcome.
Mentions: A histological examination of the nuchal mass and the dorsal liposuction confirmed the tissue as benign lipoma and lipomatosis tissue. The follow-up at 6 months was negative for the recurrence of the disease (Figs. 4, 5).

View Article: PubMed Central - PubMed

Affiliation: Department of Plastic, Reconstructive, and Aesthetic Surgery Unit, Campus Bio-Medico University of Rome, Rome, Italy.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

A 43-year-old man, Caucasian, was admitted to our unit with a lump extending from the nape of the neck to the dorsal region between the shoulders (Figs. 1, 2)... Magnetic resonance imaging (MRI) (Fig. 3) revealed a significant thickening of the subcutaneous fat from the nape of the neck to the dorsal region between the shoulders, with two notable masses: the cranial, which measured 2.4 cm×5 cm×8 cm and the distal, in the dorsal region, 6.5 cm×12 cm×8 cm... These formations, both well-encapsulated, had homogeneous hyperintense signals in the T1- and T2-weighted sequences with a reduction of the non-homogeneous internal signal sequences obtained with the suppression of the fat signal with modest and nuanced post-contrast enhancement... A histological examination of the nuchal mass and the dorsal liposuction confirmed the tissue as benign lipoma and lipomatosis tissue... In order to document the presence of retinoblastoma, multiple endocrine neoplasia (MEN) 1 and lipomatosis were evaluated with an preoperative genetic exam to confirm the diagnosis of this rare and complex syndrome; in fact, hereditary predisposition to lipomas is observed in familial multiple lipomatosis and benign cervical lipomatosis (and can also be associated with mutations in the MEN1 and phosphatase and TENsin homolog [PTEN] genes)... The RB1 encodes the retinoblastoma protein, which is the central regulator of mammalian cell cycles, and in particular, it acts as a molecular switch of adipocyte differentiation... In addition, multiple lipomas are observed in the context of hereditary neoplastic syndromes including those associated with mutations in the MEN1 and PTEN genes... Surgical excision is still the main treatment of lipoma; Stebbins et al. state that surgical excision is the treatment of choice for small lipomas... These authors further claim that in patients with large or multiple lipomas, excision scars may result in large and numerous scars; therefore, cosmetically more acceptable approaches, such as modified incisional approaches, liposuction, and intralesional laser therapy with or without liposuction, have been successful... In addition to cosmetic surgery, liposuction is a therapeutic option in other conditions such as lipomas and lipomatosis... This procedure has been enhanced by several modifications; one of the most significant advances has been the use of the tumescent technique for removing fat... The treatment of lipomas in our patient consisted of a combined approach (surgical excision and tumescent liposuction) with excellent aesthetic results, respecting the principles of literature... An early diagnosis can help the patient to be aware of his disease, which could be transmitted to his children, despite there being no previous cases of the same disease in the family, as reported by the study of Rieder et al..

No MeSH data available.