Familial occurrence of adiposis dolorosa

doi:10.1067/mjd.2001.110872

Journal of the American Academy of Dermatology

Volume 44, Issue 1, January 2001, Pages 132-136

https://doi.org/10.1067/mjd.2001.110872 Get rights and content

Abstract

Adiposis dolorosa is a rare condition characterized by multiple painful lipomas. We describe two typically affected siblings who were found to have at least 5 affected first-degree relatives in two generations. Manifestations were remarkably variable, ranging from complete disability to solitary asymptomatic tumors. Review of histopathologic findings did not reveal any features that might distinguish the tumors from common sporadic lipomas. Mutational analysis excluded the 8344 A to G mitochondrial mutation seen in other patients with multiple lipomas. Adiposis dolorosa may be an extreme manifestation of the more common condition of familial multiple lipomas. Further work is needed to define the genetic basis of these conditions. (J Am Acad Dermatol 2001;44:132-6.)

Section snippets

Patients and methods

The proband and his sister were referred to the Neurofibromatosis Clinic at Massachusetts General Hospital with a presumptive diagnosis of neurofibromatosis of unspecified type. Subsequently, additional family members were invited to participate. All study subjects underwent a complete dermatologic and neurologic examination by two study authors (R. C., M. M.). Blood samples were collected from affected and unaffected family members. Mitochondrial DNA was extracted from peripheral blood

Results

A total of 9 affected persons were identified in two generations (Fig 1).

. Pedigree of this family. Further clinical details are presented in Table I.

Manifestations ranged from single asymptomatic tumors (patient III.l) to complete disability from widespread painful involvement with tumors (patient III.5). Seven of the 9 affected persons agreed to participate in this study (Table I). Most tumors were visible from the skin surface and were firm, discrete, and nontender to direct palpation (Fig 2,

Patient III.5

The proband was a 52-year-old man noted to have “birthmarks” as a child, which he believed to have significantly faded in subsequent years. In the second decade, he began to notice “lumps” on his skin, which were somewhat painful. Approximately 10 years before evaluation, the tumors became increasingly painful. Nine years before evaluation, he underwent resection of 5 separate tumors on the right arm and the right side of the chest wall, which were given a histopathologic diagnosis of “lipoma.”

Discussion

We describe two siblings with obesity and widespread involvement by pathologically confirmed painful lipomas, consistent with the diagnosis of adiposis dolorosa. Tumors consistent with lipomas were also observed in 4 of their 6 siblings and their mother; by report a fifth sibling and their maternal uncle were affected. None of their relatives had significant pain associated with their tumors. Obesity was present in many, but not all, of their affected relatives. The proband and his sister were

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Interestingly, few obese patients had severe tophaceous gout (>5 tophi).208 Obesity is also associated with an increased incidence or aggravation of the symptoms of rare skin disorders, such as keratosis follicularis squamosa (Dohi),25,209-211 adiposis dolorosa/Dercum disease (DD),25,212-216 granular parakeratosis,25,217-227 lipedema,228-230 and lymphedematous mucinosis (Table VI).∗ DD is a rare condition characterized by multiple painful fatty lipomas.234
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Au sein des lipodystrophies la maladie de Dercum (adiposis dolorosa) tient une place à part en raison de l’existence à côté d’une obésité importante d’une lipomatose douloureuse, de sa prédominance féminine et de l’absence de profil génétique particulier même dans les rares formes familiales. Son traitement local et/ou général est décevant. Le rôle possible des adipokines est évoqué.
Among the lipodystrophic conditions Dercum's disease (adiposis dolorosa) has peculiar characteristics since beside major obesity a diffuse multiple painful lipomatosis is present. Most of the patients are females. No genetic background can be found even if rare familial cases have been observed. Local and systemic treatments are deceiving. Possible role for adipokines have been suggested.
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It is unclear whether the painful lesions in adiposis dolorosa have defining histological features. Some studies find the lesions histologically identical to “normal” lipomas.8 Other studies suggest inflammatory changes and angiolipoma-like change.4
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Institutional review board approval for this study was obtained. The imaging features at MRI and ultrasound of 13 cases of adiposis dolorosa (nine female, four male; age range 32–72 years) were reviewed. MRI findings typical for adiposis dolorosa were proposed and prospectively evaluated on 6247 MRI examinations performed over a period of 8 months.
Adiposis dolorosa demonstrates multiple, oblong, fatty lesions in the superficial subcutaneous fatty tissue. They are mostly <2 cm in long axis diameter. They demonstrate nodular (“blush-like”) increased fluid signal at unenhanced MRI and are markedly hyperechoic at ultrasound. There is no contrast medium enhancement at MRI and no increased Doppler signal at ultrasound. Most lesions were clinically asymptomatic, some were painful/tender. There was no imaging evidence of oedema or inflammation. During prospective validation of these MRI features on 6247 MRI examinations, two cases with typical imaging features were encountered; both were diagnosed as adiposis dolorosa on clinical review. All cases of adiposis dolorosa showed these imaging findings. This results in a very low likelihood that a nodular, blush-like appearance of subcutaneous fat on MRI is not due to adiposis dolorosa.
Adiposis dolorosa, Dercum's disease, should be suggested in the presence of multiple (many) small, oblong, fatty lesions in the subcutaneous fatty tissue in adult patients if they are hyperechoic on ultrasound imaging or blush-like at unenhanced MRI; typically a small number of these lesions are tender/painful. Imaging does not demonstrate inflammation or oedema in relation to these lesions. These MRI features should suggest the diagnosis and are likely to be pathognomonic. The radiologist is often the first to suggest the diagnosis based on the imaging features.
Familial multiple lipomatosis associated with multiple cherry hemangiomas and moles: a rare case report
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^☆: Supported by grant R01NS35878-02 from the National Institutes of Health (to M. M.).

^☆☆: Reprint requests: Mia MacCollin, Neuroscience Center, MGH-East, Bldg 149, 13th St, Charlestown, MA 02129. E-mail: [email protected].

^★: J Am Acad Dermatol 2001;44:132-6.

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Brief ReportsFamilial occurrence of adiposis dolorosa☆,☆☆,★

Abstract

Section snippets

Patients and methods

Results

Patient III.5

Discussion

Genomics

Am J Hum Genet

J Am Acad Dermatol

J Am Acad Dermatol

J Am Acad Dermatol

J Hepatol

Three cases of a hitherto unclassified affection resembling in its grosser aspects obesity, but associated with special nervous symptoms—adiposis dolorosa

Am J Med Sci

Dercum's disease (adiposis dolorosa): a case report and review of the literature

Clin Orthop Rel Res

Adiposis dolorosa (Dercum's disease): 10-year follow-up

Ann Plast Surg

Dercum's disease (adiposis dolorosa)

J Laryngol Otol

Adiposis dolorosa

Univ Mich Med Center J

Surgical amelioration of Dercum's disease: a report and review

J Dermatol Surg Oncol

Hereditary factors in adiposis dolorosa (Dercum's disease)

Am J Hum Genet

Autosomal dominant inheritance in adiposis dolorosa (Dercum's disease)

Humangenetik

Brief Reports
Familial occurrence of adiposis dolorosa☆,☆☆,★