Dermal and Subcutaneous Tumors

Mastocytosisurticaria pigmentosa

Local and systemic accumulations of mast cells

Persistent pigmented itchy skin lesions

Urticate on mechanical or chemical irritation

c-KIT mutation

Birth to middle age, ½ < 6 mo

Macules, papules, nodules, plaques, vesicles

Lesions persist and gradually become chamois- or slate-colored

Darier’s sign, pruritis

Severe symptoms may result from massive liberation of histamine from mast cells after ingestion of known mast cell degranulators

Spontaneous resolution is likely in those pts whose disease began in childhood

Urticaria pigmentosa

Solitary mastocytoma

May be present at birth, may develop during the first weeks of life

Brown macule that urticates upon stroking

Smooth or peau d’ orange

Dorsum of the hand near the wrist

Edema, urtication, vesiculation may be observed

Generalized eruption, childhood type

Pseudoxanthomatous mastocytosis

Diffuse cutaneous mastocytosis

Generalized eruption, adult type

Erythrodermic mastocytosis

Telangiectasia macularis erupta perstans

Systemic mastocytosis

Familial urticaria pigmentosa

Giemsa, azure A, or polychrome toluidine blue

Local anesthetic adjacent to the lesion, without epi

Dx is bx confirmed

Histamine metabolites methylhistamine and methylimidazole acetic acid

Prognosis and treatment

In all forms without systemic involvement the prognosis is good

Solitary lesions usually involute within 3 years

H1 and H2 blockers

PUVA

Intralesional and topical steroids

Avoid physical stimuli

Abnormalities of neural tissue

Solitary neurofibroma

Soft, flaccid, pinkish white, 2-20 mm

Invaginates on pressure, “buttonholing”

Solitary or multiple

Distinctive histopathologic findings, fibrils, cellular proliferation, and degenerative changes

Sx excision

Granular cell tumorWell-circumscribed, solitary firm nodule, with a brownish red or flesh tintUsually solitary, 10-15 % multiple1/3 of cases have occurred on the tongueMay occur anywhere on the bodyGrows slowlyCells stain positively with vimentin, neuron-specific enolase, S-100, and myelin proteinMalignant granular cell tumor is rare

Neuroma cutisThree true neuromas exist in the skin and mucous membranes: traumatic neuroma, multiple mucosal neuromas, and solitary palisaded encapsulated neuromasTraumatic neuromas occur commonly on the fingers, tender and painfulMultiple mucosal neuromas occur as part of multiple mucosal neuroma syndromesolitary palisaded encapsulated neuromas occur commonly on the face, resembles BCC

neurothekeoma

Nerve sheath myxoma

Benign tumor of nerve sheath

Mitotic figures and nuclear atypia are sometimes observed

Intradermal or subcutaneous

Histologically are divided into two subtypes: myxoid and more common cellular variant

schwannoma

neurilemmoma

Usually a solitary nerve sheath tumor

Most often seen in women

Occur almost exclusively along the main nerve trunks of the extremities

Soft or firm nodules, may be painful

May be multiple

May be assoc. with NF-1 or NF-2

Occur in many other organs

excision

Infantile neuroblastomaThe most common malignant tumor of childhoodCutaneous nodule are most often seen in the younger patientsBlue nodules the when rubbed form a halo of erythemaPeriorbital ecchymoses and heterechromiaGood prognosis for patients with skin involvement, spontaneous remission

ganglioneuroma

Rarely described in the skin as an isolated entity

Arise most often in von Recklinghausen’s neurofibromatosis

Occur in childhood

Nasal gliomaCephalic brainlike heterotopiasRare, benign congenital tumorsEasily confused with hemangiomasFirm, reddish blue lesion on the nasal bridgeNo connection with the subarachnoid spaceRadiography and neurosurgical consultationDoes not involute spontaneously

Cutaneous memingioma

Psammoma

Results from the presence of meningocytes outside the calvarium

Small, hard, fibrous, calcified nodules occurring along the spine, in the scalp, and on the forehead

Usually seen within the first year

No distinctive appearance, dx by histo

Encephalocele and Meningocele

Primary defect in the neural tube

Present in infancy along the midline

Compressible masses that may transilluminate or enlarge with crying

Midline masses require intensive radiologic and neurosurgical evaluation before biopsy

chordomas

Slow-growing, locally invasive Firm, smooth nodules in the sacralcoccygeal region or at the base of the skullArise from notochord remnantsMay metastasize late in their courseWide excision and postoperative radiation therapy

Abnormalities of Fat Tissue

lipomas

Subcutaneous tumors composed of fat tissue

Most commonly found on the trunk

Also neck, forearms and axillae

Soft, single or multiple, lobulated and compressible

Growth to size and remain stationary

again be careful of sacrococcygeal lipomas

Lesion may be left untreated or excised

Solitary lesions reaching greater than 10 cm should be investigated for malignancy

Multiple lesion may be painful if growing rapidly

Madelung’s disease, benign symmetric lipomatosis

Dercum’s disease, assoc with weakness and psychiatric disturbances

Familial multiple lipomatosis, AD inheritance

Bannayan-Riley-Ruvalcaba syndrome

MEN 1

Frohlich’s syndrome

Gardner’s syndrome

angiolipoma

A painful subcutaneous nodule just slightly above the level of the skin

Has all other typical features of a lipoma

Seen in young adults who have multiple painful lumps in the skin

Multiple subcutaneous angiolipomas have no invasive or metastatic potential

Neural fibrolipoma

Overgrowth of fibro-fatty tissue

Occurs along a nerve trunk and often leads to compression

Slowly enlarging subcutaneous mass with tenderness and decreased sensation or parasthesia

Median nerve is most commonly involved

MRI, no effective treatment

Spindle-cell lipoma

Asymptomatic, slow growing subcutaeneous tumor

Predilection for the back and neck and shoulders of older men

Consists of lobulated masses of mature adipose tissue

Painful Piezogenic pedal papules

Transitory, soft, sometimes painful papules on the sides of the heels

Elicited by weight-bearing and disappearing when this is stopped

Occur in at least 75 % of normal individuals

Suitable supportive shoes may alleviate discomfort

May occur on the wrist

Nevus lipomatosus superficialis

Soft, yellowish papule or ceribriform plaques, usually of the buttock or thigh, less often the ear or scalp

A wrinkled surface characterizes this tumor

Onset prior to age of 20

Nevus lipomatosus superficialis

Folded skin with scarring

Rare, aka Michelin Tire Baby Syndrome

There are numerous deep, conspicuous, symmetrical, ringed creases around the extremities

The underlying skin may manifest a smooth muscle hamartoma, a nevus lipomatosis, or elastic tissue abnormalities

AD, sporadic or an isolated finding assoc with congenital facial and limb abnormalities

Diffuse lipomatosis

Characterized by an early age of onset, by the age of 2, diffuse infiltration of muscle by and encapsulated mass of mature lipocytes

Progressive enlargement and extension

Usually involves a large portion of the trunk or extremity

Hibernoma(lipoma of brown fat)

A form of lipoma composed of finely vacuolated fat cells of embryonic type

Have a distinctive brownish color and a firm consistency

Benign and usually occur singly

Chiefly in the mediastinum and the interscapular region

Onset usually in adult life

Pleomorphic lipoma

Occur for the most part on the backs and necks of elderly men

Occasional lipoblast-like cells and atypical mitotic figures may require differentiation from a liposarcoma

Behave in a perfectly benign manner`

Benign lipoblastomatosis

Frequently confused with a liposarcoma

Affects exclusively infants and young children, 90% < age 3

Commonly involves the soft tissues of the upper or lower extremity

A circumscribed and a diffuse form can be distinguished

TOC- complete local excision

liposarcomaOne of the less common mesenchymal neoplasms of the soft tissueUsually arise from intermuscular fasciaDo not arise from preexisting lipomasUsual course is an inconspicuous swelling of the soft tissue with gradual enlargementWhen a fatty tumor becomes greater than 10 cm DX should be consideredUpper thigh is the most common site

Adult males are mostly affected

May be well or poorly differentiated

Tx is adequate radical excision

For metastatic liposarcomas, radiation therapy may be effective

Abnormalities of smooth muscle

leiomyoma

Smooth muscle tumors

Characterized by painful nodules

Singly or multiple

Benign

Treatment is directed toward the removal of the pain source

Simple excision is best

Solitary cutaneous leiomyoma

Multiple cutaneous leiomyomas

Solitary genital leiomyoma

angioleiomyoma

Grouped leiomyomata of the back

Congenital smooth muscle hamartoma

Typically a skin colored or slightly pigmented patch or plaque with hypertrichosis Often present at birthUsually seen on the trunk, lumbosacral area in 2/3Michelin tire baby syndrome may result from a diffuse smooth muscle hamartoma

Clinically may mimic a mastocytoma, pseudo-Darier’s sign is seen in 80%

No treatment is necessary

leiomyosarcoma

Of soft tissue origin are extremely rare

May occur as metastasis from internal source

Appears in the dermis as a solitary nodule, good prognosis

Subcutaneous lesions have a guarded prognosis, with fatal hematogenous metastases in 1/3

WLE or Mohs

Miscellaneous tumors and tumor-associated conditions

Cutaneous endometriosisBrownish papules in the umbilicus or lower abdominal scars after gynecologic surgeryTender or painful lesionsBluish black from cyclic bleedingUsually misdiagnosed as malignant metastasesSurgical excisionPreoperative tx with danazol or leuprolide may reduce size

teratoma

May develop in the skin but are most common in the ovaries or testes

No characteristic clinical features

Tissue representing all three germ layers are present

Occasionally malignancy may occur

Metastatic carcinoma

5 to 10% of patients with cancer develop skin metastases

Usually present as numerous firm, hard, or rubbery masses

Predilection for chest, abdomen or scalp

Sister Mary Joseph nodule, metastatic tumor localized to the umbilicus, most common primary sites include the stomach, large bowel, ovary and pancreas

A poor prognosis is usually the ruleThe involvement of the skin is likely to be near the area of the primary tumorBreast cancer is the type most commonly metastatic to the skin in women and melanoma followed by lung cancer in menMetastatic lesions are uncommon in children

Paraneoplastic syndromes

Some cancers produce findings in the skin that indicate to the clinician that an underlying internal malignancy may be present

Bazex’s syndrome, characterized by violaceous erythema and scaling of the fingers, toes, nose, and aural helices.

Secondary to a primary malignant neoplasm of the upper aerodigestive tract

Bazex’s syndrome

Necrolytic migratory erythema, seen with glucagon-secreting tumors of the pancreasErythema gyratum repens, erythema with characteristic wood-grain-pattern scales, is almost always associated with and underlying malignancyHypertrichosis lanuginosa aquisata, most common with lung and colon ca

EGR

Erythema gyratum repens

Hypertrichosis lanuginosa

The sign of Lesser-Trelat, the sudden appearance of multiple pruritic seborrheic keratosis, associated with and internal malignancy

Trousseau’s sign, migratory thrombophlebitis, pancreatic ca

Pityriasis rotunda

Tripe palms

Several others with less frequency

carcinoid

Characterized by distinctive involvement of the lungs, heart, gastrointestinal tract and the skin

Cutaneous flushing lasting 5-10 minutes

Involves the head and neck producing a scarlet color

Cyanosis may be present

Episodic flushing continues for months or years

The release of excessive amounts of serotonin and bradykinen into circulation produces attacks of flushing of the skin, weakness, abdominal pain, nausea and vomiting, sweating, palpitation, diarrhea and collapse

Tumor arises from the argentaffin Kulchitsky chromaffin cells of the appendix or terminal ileum (gi, lungs, ovaries, testes)

The diagnosis may be established by finding high levels of 5-hydroxyindolacetic acid (5-HIAA) in the urine

Tx- primary tumor should be removed, and excision of metastatic lesion should be considered

Chemotherapy