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Dermal and Subcutaneous Tumors. Mastocytosis urticaria 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

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Dermal and Subcutaneous Tumors

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Dermal and subcutaneous tumors l.jpg

Dermal and Subcutaneous Tumors


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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


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  • 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


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Urticaria pigmentosa


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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


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  • Generalized eruption, childhood type

  • Pseudoxanthomatous mastocytosis

  • Diffuse cutaneous mastocytosis

  • Generalized eruption, adult type

  • Erythrodermic mastocytosis

  • Telangiectasia macularis erupta perstans

  • Systemic mastocytosis

  • Familial urticaria pigmentosa


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  • 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


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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


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Abnormalities of neural tissue


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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


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Granular cell tumor

  • Well-circumscribed, solitary firm nodule, with a brownish red or flesh tint

  • Usually solitary, 10-15 % multiple

  • 1/3 of cases have occurred on the tongue

  • May occur anywhere on the body

  • Grows slowly

  • Cells stain positively with vimentin, neuron-specific enolase, S-100, and myelin protein

  • Malignant granular cell tumor is rare


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Neuroma cutis

  • Three true neuromas exist in the skin and mucous membranes: traumatic neuroma, multiple mucosal neuromas, and solitary palisaded encapsulated neuromas

  • Traumatic neuromas occur commonly on the fingers, tender and painful

  • Multiple mucosal neuromas occur as part of multiple mucosal neuroma syndrome

  • solitary palisaded encapsulated neuromas occur commonly on the face, resembles BCC


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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


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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


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  • Occur in many other organs

  • excision


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Infantile neuroblastoma

  • The most common malignant tumor of childhood

  • Cutaneous nodule are most often seen in the younger patients

  • Blue nodules the when rubbed form a halo of erythema

  • Periorbital ecchymoses and heterechromia

  • Good prognosis for patients with skin involvement, spontaneous remission


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ganglioneuroma

  • Rarely described in the skin as an isolated entity

  • Arise most often in von Recklinghausen’s neurofibromatosis

  • Occur in childhood


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Nasal glioma

  • Cephalic brainlike heterotopias

  • Rare, benign congenital tumors

  • Easily confused with hemangiomas

  • Firm, reddish blue lesion on the nasal bridge

  • No connection with the subarachnoid space

  • Radiography and neurosurgical consultation

  • Does not involute spontaneously


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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


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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


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chordomas

  • Slow-growing, locally invasive

  • Firm, smooth nodules in the sacralcoccygeal region or at the base of the skull

  • Arise from notochord remnants

  • May metastasize late in their course

  • Wide excision and postoperative radiation therapy


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Abnormalities of Fat Tissue


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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


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  • 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


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  • Familial multiple lipomatosis, AD inheritance

  • Bannayan-Riley-Ruvalcaba syndrome

  • MEN 1

  • Frohlich’s syndrome

  • Gardner’s syndrome


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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


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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


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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


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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


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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


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  • Nevus lipomatosus superficialis


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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


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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


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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


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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`


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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


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liposarcoma

  • One of the less common mesenchymal neoplasms of the soft tissue

  • Usually arise from intermuscular fascia

  • Do not arise from preexisting lipomas

  • Usual course is an inconspicuous swelling of the soft tissue with gradual enlargement

  • When a fatty tumor becomes greater than 10 cm DX should be considered

  • Upper thigh is the most common site


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  • Adult males are mostly affected

  • May be well or poorly differentiated

  • Tx is adequate radical excision

  • For metastatic liposarcomas, radiation therapy may be effective


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Abnormalities of smooth muscle


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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


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  • Solitary cutaneous leiomyoma

  • Multiple cutaneous leiomyomas

  • Solitary genital leiomyoma

  • angioleiomyoma


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Grouped leiomyomata of the back


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Congenital smooth muscle hamartoma

  • Typically a skin colored or slightly pigmented patch or plaque with hypertrichosis

  • Often present at birth

  • Usually seen on the trunk, lumbosacral area in 2/3

  • Michelin tire baby syndrome may result from a diffuse smooth muscle hamartoma


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

  • No treatment is necessary


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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


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Miscellaneous tumors and tumor-associated conditions


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Cutaneous endometriosis

  • Brownish papules in the umbilicus or lower abdominal scars after gynecologic surgery

  • Tender or painful lesions

  • Bluish black from cyclic bleeding

  • Usually misdiagnosed as malignant metastases

  • Surgical excision

  • Preoperative tx with danazol or leuprolide may reduce size


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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


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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


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  • A poor prognosis is usually the rule

  • The involvement of the skin is likely to be near the area of the primary tumor

  • Breast cancer is the type most commonly metastatic to the skin in women and melanoma followed by lung cancer in men

  • Metastatic lesions are uncommon in children


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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


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Bazex’s syndrome


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  • Necrolytic migratory erythema, seen with glucagon-secreting tumors of the pancreas

  • Erythema gyratum repens, erythema with characteristic wood-grain-pattern scales, is almost always associated with and underlying malignancy

  • Hypertrichosis lanuginosa aquisata, most common with lung and colon ca


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EGR


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Erythema gyratum repens


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Hypertrichosis lanuginosa


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  • 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


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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


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  • 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)


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  • 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


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