Are You Confident of the Diagnosis?
What you should be alert for in the history
The age of presentation is dependent on the clinical form of the disease. Nevus lipomatosis superficialis is classified into two clinical forms. In the classical Hoffmann-Zurhelle form, the age of presentation ranges from birth until the first three decades of life. In the solitary form, it ranges from the third to the sixth decades of life. There is no gender, racial, or familial predilection.
Nevus lipomatosis superficialis is usually asymptomatic but rarely associated with with foul smelling discharge, pain or ulceration. The rate of growth is static to slow. Sites of predilection include the pelvic girdle, lumbar area, buttock, and upper thigh, and rarely the scalp, face, nose, neck, shoulder, thorax, genitalia, abdomen, and soles.
Characteristic findings on physical examination
In the classical Hoffmann-Zurhelle form, characteristic findings include groups of multiple , soft non-tender, pedunculated, yellowish or skin colored papules, nodules and plaques of varying sizes (Figure 1.). Their surfaces are either smooth. cerebriform. wrinkled or warty; rarely comedonal, peau d’orange-like or hairy. Their distribution is linear, zosteriform, zonal or along the lines of the skin folds. Body sites include the pelvic girdle, lumbar area, buttock and upper thigh, and rarely the scalp, face, nose, neck, shoulder, thorax, genitalia, and abdomen.
In the solitary form, the characteristic finding is a solitary, often pedunculated, flesh colored papule or nodule (Figure 2). There is no favored location, with cases reported on the scalp, eyelid, forehead, ear, neck, axillae, trunk, thigh, knee, calf, and soles.
Associated features include abnormalities of the connective tissue (connective tissue nevus) and abnormalities of the appendage (folliculosebaceous cystic hamartoma, polypoid basal cell carcinoma, dermoid cyst), as well as others (lipedematous scalp, cerebral arteriovenous malformation, cerebral aneurysm, cafe-au-lait macules, scattered leukoderma, intradermal melanocytic nevus).
Expected results of diagnostic studies
On histopathology, the epidemis is normal. In the dermis, groups or clusters of mature ectopic adipocytes lie among the collagen bundles in the reticular dermis, commonly around the blood vessels and eccrine glands in the subpapillary plexus (Figure 2 ,Figure 3). These ectopic adipocytes may extend into the papillary dermis. There is essentially no continuity between these ectopic adipocytes and the subcutaneous fat tissues, although rarely, this does occur. The proportion of the dermal fat cells ranged from 10% to 50%. Mild infiltration of the inflammatory cells are commonly seen, most commonly perivascularly. The subcutis is normal.
Associated features include the following:
Epidermis: acanthosis and papillomatosis.
Dermis: thickened collagen bundles, increased number of fibroblasts and fibrocytes (stained with vimentin), capillary blood vessel proliferation, reduction of elastic fibers (stained with von Gieson) and marked deposition of mucopolysaccarides (stained with Alcian blue).
Appendages: Abortive hair germ structure, dilated follicular ostia and perifollicular fibrosis.
Clinical Differential Diagnosis
Classical Hoffmann-Zurhelle needs to be differentiated from
Nevus: Verucoid nevus, sebaceous nevus and connective tissue nevus.
Soft tissue tumors: Lipomatosis, angiolipomatosis, lipoblastomatosis, lipofibromatosis, Michelin tyre syndrome, neurofibromatosis, fibro-epithelial papillomas and collagenoma.
Skin appendageal tumors: Trichoepitheliomas and cyclindromas.
Others: Focal dermal hypoplasia, lymphangioma, hemangioma and localized scleroderma.
All are differentiated form nevus lipomatosus superficialis histopathologically by the absence of dermal adipocytes except for focal dermal hypoplasia and lipofibroma.
Solitary forms need to differentiated from:
Nevus: Intradermal melanocytic nevus.
Soft tissue tumors: Lipoma, lipofibroma, angiolipoma, neurofibroma and fibro-epithelial papilloma.
Skin appendageal tumor: Trichoepithelioma and cyclindroma.
Others: Accessory nipple, lymphangioma and hemangioma.
All are differentiated from nevus lipomatosus superficialis histopathologically by the absence of dermal adipocytes, except for an intradermal melanocytic nevus and lipofibroma.
Histopathological Differential Diagnosis
Lipofibroma: Differentiated by the clinical features and the absence of appendages on histopathological examination (dermal fat cells present simulating nevus lipomatosus superficialis).
Focal dermal hypoplasia (Goltz-Gorlin syndrome): Differentiated by the clinical features and absence of dermal collagen and appendages (dermal fat cells present simulating nevus lipomatosus superficialis).
Dermal melanocytic nevus: Differentiated by the clinical features and the presence of nests of nevus cells in the dermis (dermal fat cells present simulating nevus lipomatosus superficialis)
Piezogenic pedal papules: Differentiated by the clinical features and the loss of septa and enlargement of the fat lobules in the subcutis (dermal fat cells present simulating nevus lipomatosus superficialis).
Who is at Risk for Developing this Disease?
This disease is rare and its incidence is unknown. The individuals at risk for this disease are also unknown.
The genetic abnormalities associated with this disease are obscure. Possible genetic alterations include deletion of the short arm of chromosome 11 and 2p24 deletion.
What is the Cause of this Disease?
The precise etiopathogenesis of nevus lipomatosus superficialis is unknown. Theories of etiopathogenesis include:
Degenerative changes in the dermal collagen fibers and elastic tissues leading to deposition of the ectopic adipocytes (adipose metaplasia).
Focal heterotopic development of the adipose tissues (true nevus).
Development of the ectopic adipocytes from the preadipose tissues derived from the dermal perivascular mesenchymal tissues.
The cause of the predilection of nevus lipomatosus superficialis for the pelvic girdle region is unknown. Theories of the predilection for pelvic girdle region include:
Persistent pressure in the pelvic girdle area during intrauterine life.
Thickness of the fat pad in the pelvic girdle area predisposing to fat cell disorders.
The reason for the presence of spontaneous necrosis, ulceration and foul smelling discharge is unknown. Postulations include:
Compression of the dermal blood vessles by the ectopic adipocytes.
External trauma due to the persistent pressure on the pelvic girdle region.
Systemic Implications and Complications
Nevus lipomatosis superficialis is a cosmetic defect. There are no so systemic complications and it is not a premalignant condition.
Treatment options are summarized in Table I.
|Modality of Treatment||Options||Order|
|Conservative||Patient education and reassurance||Mainstay of management|
|Surgical||Excision (shave or surgical)||Preferred treatment for patients with cosmetic concern, necrosis, ulceration, and foul smelling discharge|
|Physical||Carbon dioxide laser (superpulse, continuous wave mode, 10 J/cm2, 2mm spot size)Liquid nitrogen cryotherapy||Alternative treatment for cases where surgical excision is difficult|
|Medical||Intralesional phosphatidylcholine (50mg/mL)||Alternative treatment in cases where surgical treatment is difficult|
Optimal Therapeutic Approach for this Disease
The mainstay of treatment is conservative management combined with patient education and counselling. For patients with cosmetic concerns, or if necrosis, ulceration, and/ foul smelling discharge occur, the preferred treatment for both solitary and small classical Hoffman-Zurhelie nevus lipomatosis superficialis is surgical or shave, excision, which provides a good surgical and cosmetic outcome. There is no postexcision recurrence.
Alternative treatments include:
Liquid nitrogen cryotherapy, for larger nevus lipomatosus superficialis not suitable for surgical excision or smaller lesions located in difficult-to-excise sites. Cryotherapy given for each individual lesion. Outcome: Flattens thick lesions individually (partial response).
Carbon dioxide laser (superpulse carbon dioxide laser, continuous wave mode, 10 J/cm2, 2 mm spot size), for larger lesions not suitable for surgical excision or smaller lesions located in difficult-to-excise sites. Outcome: No recurrence 12 months postlaser.
Intralesional phosphatidylcholine (50 mg/mL), for larger lesions not suitable for surgical excision or smaller lesions located in difficult-to-excise sites. Outcome: Flattens thick lesions. Mode of action unknown.
The key information to give the patient and family members is that nevus lipomatosus superficialis is a benign developmental disorder that usually remains static or enlarges slowly. It does not progress to malignancy and is not associated with systemic complications. No treatment is required. If patients are cosmetically concerned, or the lesions ulcerate, necrose or discharge foul smelling material, it is best to be excised them surgically. It will not recur after surgical excision.
Unusual Clinical Scenarios to Consider in Patient Management
What is the Evidence?
Yap, FB. “Nevus lipomatosus superficialis”. Singapore Med J. vol. 5. 2009. pp. e161-2. (A case report of a 21-year-old woman with a classical Hoffmann-Zurhelle nevus lipomatosus superficialis on the pelvic girdle region with a rare occurence of spontaneous foul smelling discharge.)
Ioannidou, DJ, Stafanidou, MP, Panayiotides, JG, Tosca, AD. “Nevus lipomatosus cutanoeus superficialis (Hoffmann-Zurhelle) with localized scleroderma like appearance”. Int J Dermatol. vol. 40. 2001. pp. 54-7. (A case report of a 56-year-old woman with an unusual scleroderma-like appearance of nevus lipomatosus superficialis on the right face.)
Ghosh, SK, Bandyopadhyay, D, Jamadar, NS. “Nevus lipomatosus cutaneous superficialis: an unusual presentation”. Dermatol Online J. vol. 16. 2010. (A case report of a 51-year-old man with classical Hoffmann-Zurhelle form of nevus lipomatosus superficialis with a comedo-like plugs on the lesions, foul smelling discharge, and unusual location of the left ear pinna.)
Park, HJ, Park, CJ, Kim, TY, Kim, CW. “Nevus lipomatosus superficialis on the face”. Int J Dermatol. vol. 36. 1997. pp. 435-7. (A case report of a 17 year old lady with classical Hoffmann-Zurhelle form of nevus lipomatosus superficialis of the face, which is a rare location.)
Mansur, AT, Yasar, S, Aydingoz, IE, Goktay, F, Ozdemir, N, Sungurlu, F. “Colocalization of lipedematous scalp and nevus lipomatosus superficialis: a case report”. J Cutan Pathol. vol. 34. 2007. pp. 342-5. (A case report of a 46-year-old woman who had the classical Hoffmann-Zurhelle form of nevus lipomatosus superficialis on the scalp accompanied by lipedematous scalp just beneath and peripheral to the nevus.)
Brasanac, D, Boricic, I. “Giant nevus lipomatosus superficialis with multiple folliculosebaceous cystic hamartomas and dermoid cysts”. J Eur Acad Dermatol Venereol. vol. 19. 2005. pp. 84-6. (A case report of a 47-year-old woman with the classical Hoffmann-Zurhelle form of nevus lipomatosus superficialis in the sacral region in which the histopathological examination revealed an association with multiple folliculosebaceous hamartomas and dermoid cysts.)
Takashima, S, Toyoda, M, Ikeda, Y, Kagoura, M, Morohashi, M. “Nevus lipomatosus cutaneous superficialis with perifollicular fibrosis”. Eur J Dermatol. vol. 13. 2003. pp. 584-6. (A case report of a 10-month-old girl with the classical Hoffmann-Zurhelle form of nevus lipomatosus superficialis on the abdomen in which the histopathological examination showed the typical picture with a rare occurrence of perifollicular fibrosis.)
de Paula Mesquita, T, de Almeida, HL, de Paula Mesquita, MC. “Histologic resolution of naevus lipomatosus superficialis with intralesional phosphatidylcholine”. J Euro Acad Dermatol Venereol. vol. 23. 2009. pp. 714-5. (A case report of a 12-year-old girl with the classical Hoffmann-Zurhelle form of nevus lipomatosus superficialis on the right lumbar region that was successfully treated with intralesional phosphatidylcholine 50mg/mL.)
Fatah, S, Eliis, R, Seukeran, DC, Carmicheal, AJ. “Successful CO2 laser treatment of naevus lipomatosus cutaneous superficialis”. Clin Exp Dermatol. vol. 35. 2010. pp. 559-60. A case report of 9-year-old boy with the classical Hoffmann-Zurhelle form of nevus lipomatosus superficialis on the right buttock that was successfully treated with CO2 laser.)
Cardot Lessia, N, Italiano, A, Monteil, MC, Basc, E, Perrin, C, Pedeutour, S. “Naevus lipomatosus superficialis: a case report with 1 2p24 deletion”. Br J Dermatol. vol. 156. 2007. pp. 380-1. (A case report of a 44-year-old man with the classical Hoffmann-Zurhelle form of nevus lipomatosus superficialis of the right buttock with a novel somatic chromosomal abnormality of 2p24 deletion.)
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