Chapter 66 Dermal Hypertrophies and Benign Fibroblastic/Myofibroblastic Tumors

Question 1

predisposition to keloids in darker skin and reports of a familial, autosomal _____ inheritance suggest genetic influences.

Answer 1

dominant

Question 2

There also is an apparent association with melanin pigment, as albino and vitiliginous skin form keloids. T/F ?

Answer 2

F

do not

Question 3

Histopathologically, ____ are composed of thick, haphazard, eosinophilic, collagen bundles

Answer 3

keloids

Question 4

______ are more cellular with myo bro- blasts either in disorganized whorls or sometimes oriented parallel to the epidermis

Answer 4

Hypertrophic scars

Question 5

Hypertrophic scars are associated with HLA-_____

Answer 5

DRB16

Question 6

Keloids express increased levels of the ____ protein, an oncogene product also present in neoplasms such as basal cell carcinoma

Answer 6

gli-1 protein

Question 7

______ (a collagenase inhibitor usually not present in normal scars) may contribute to increased collagen deposits

Answer 7

α1-Globulin

Question 8

Hypertrophic scars have decreased levels of the profibrotic agent ______

Answer 8

tumor necrosis factor

Question 9

_____ treatment reduces TGF-β1 levels in keloids

Answer 9

Carbon dioxide laser

Question 10

Dermato broma is a common, benign tumor that has a predilection for the _______

Answer 10

lower legs of women

Question 11

Histologically, the epidermis is usually hyperplastic and hyperpigmented.
There may be follicular or sebaceous induction.
The dermis has fascicles or haphazardly arranged collections of spindle cells that lack atypia in most cases of ______

Answer 11

dermatofibroma

edges of the lesion are poorly defined with individual cells hugging collagen bundles (“collagen entrapment”)

Question 12

Dermatofibromas are generally factor ____ and CD ____

Answer 12

XIIIa-positive and CD34−

Question 13

features of ATYPICAL, CELLULAR, DEEP, AND INDETERMINATE FIBROUS HISTIOCYTOMAS

Answer 13

Clinical Features
Often >2 cm in size
Sometimes facial
Any age, but some predilection for young adults Often recur after incomplete excision
Rare potential for metastasis

Histologic Features
Background of dermatofibroma/fibrous histiocytoma
Variable areas of atypical cells, high cellularity
May extend deeply into subcutaneous, sometimes in a honeycomb pattern
May stain with CD34

Question 14

Histologically, ______ is a polypoid lesion with a central collagenous core. Adnexal structures are generally absent.

Answer 14

an acrochordon (fibroepithelial polyp, soft fibroma)

Question 15

Histologically, the dermis shows fibrosis with stellate fibroblasts and dilated vessels.

Answer 15

fibrous papules (angiofibroma)

Identical histology is seen in pearly penile papules and periungual fibromas (Koenen’s tumors)

Question 16

2- to 4-mm, dome-shaped, yellowish to skin-colored papules located on the head, neck, and upper trunk; multiple lesions may be associated with Birt–Hogg–Dubé syndrome

Answer 16

fibrofolliculoma/trichodiscoma

Question 17

Histologically, _______ show a normal epidermis overlying collagen in the lower dermis. The collagen may be subtly increased, thickened, or oriented vertically to the epidermis, and muscin may be increased. Elastic fibers may also be increased.

Answer 17

connective tissue nevi

Familial cutaneous collagenoma is an autosomal dominantly inherited condition of multiple, often papular connective tissue nevi usually appearing postpuberty on the trunk and upper extremities

pro- gressive cardiomyopathy.

Question 18

Mutations have been found in the adenomatous polyposis coli (APC) gene (5q21)

Answer 18

desmoid tumor (aggressive fibromatosis)

Tumors associated with Gardner/Familial adenomatous polyposis (FAP) are often intra- abdominal, may be more aggressive and surgically unresectable, and are associated with a 10% mortality

Question 19

______ presents as a rapidly growing nodule on the head and neck, shoulder/upper arm, or thigh; generally before age 2

Answer 19

Infantile fibromatosis

The lipofibromatosis variant has a predilection for the hands and feet

Question 20

________ generally presents before age 2, with many cases being congenital.
Multiple nodules involving the skin and other organs (gastrointestinal, kidney, lung, heart) are seen, with mortality approaching 75%

Answer 20

Infantile myofibromatosis

Histologic diagnosis relies on the identification of two separate components—a fascicular myofibroblastic pattern at the periphery with a hemangiopericytoma-like pattern in the center

Question 21

Histopathologic examination as well as cytogenetic and molecular pathology studies will distinguish ______ (chromosome 8 abnormalities) from ______________ (translocation between chromosomes 12 and 15—ETV6 and NTRK3 genes)

Answer 21

myofibromas

congenital infantile fibrosarcomas

Question 22

_____________ is a rare benign tumor that presents before age 2 (up to 25% congenital) as a solitary, painless, rapidly growing, flesh-colored, ill-defined, subcutaneous nodule, or plaque. There is a male predominance.

Answer 22

Fibrous hamartoma of infancy

These lesions rarely present with overlying skin changes such as hypertrichosis, alteration in pigmentation, and eccrine
gland hyperplasia

Question 23

________ is an often self-limiting, rapidly growing tumor, presenting in the first few weeks of life.
benign proliferation of fibroblasts in the lower one-third of the sternocleidomastoid muscle, rarely bilateral, and occasionally associated with torticollis or facial asymmetry

Answer 23

Fibromatosis colli

fine needle aspiration for diagnosis

Question 24

__________ is a rare form of superficial juvenile fibromatosis presenting as (an) asymptomatic, flesh-colored, firm nodule(s) on the fingers and toes (tending to spare the thumb or hallux)

Answer 24

Infantile digital fibromatosis

The pathognomonic finding is eosinophilic, perinuclear inclusion bodies composed of actin laments, which stain red with Masson trichrome stain and purple with phospho- tungstic acid-hematoxylin

Question 25

the palms and soles of male children and young adults (peak incidence between the ages of 8 and 14) it can present in any area that is closely related to aponeuroses It is a very slow growing, deep-seated firm proliferation that presents as an asymptomatic infiltrative soft tissue mass, usually measuring less than 3 cm in diameter

Answer 25

calcifying aponeurotic fibroma On histopathologic examination, it is an ill-defined, poorly circumscribed tumor composed of spindled fibroblasts surrounding central calcified foci

Question 26

rare, autosomal recessive condition secondary to a defect on chromosome 4q21 associated with the locus of the capillary morphogenesis gene-2 (CMG2) From infancy, subcutaneous, pearly papules and firm, large nodules that progressively enlarge and may ulcerate appear on the nose, chin, ears, scalp, hands, back, and knees gingival hypertrophy, which can result in periodontal disease and caries

Answer 26

Juvenile hyaline fibromatosis (JHF)

Question 27

manifestations are present within the first months of life and often at birth diffusely thickened skin, hyperpigmented plaques on bony prominences, visceral involvement, frequent infections, and persistent diarrhea with failure to thrive, leading to death during infancy

Answer 27

infantile systemic hyalinosis (ISH)

Question 28

_______ is characterized by progressive fibrosis of the palmar fascia, most commonly presenting as one or more nodules over the fourth and fifth metacarpal head. Nodules become cords, and joint contractures and exion deformities of the fingers may follow

Answer 28

Dupuytren contracture (palmar fibromatosis) Signi cant risk factors for development of Dupuytren contracture include old age, male sex, white northern European ancestry, family history, seizures, alcohol-induced liver disease, trauma, smoking, and diabetes mellitus

Question 29

________ is characterized by plantar fibrosis especially over nonweight-bearing areas of the sole Contractures are uncommon

Answer 29

Ledderhose disease

Question 30

Fibrosis of the dorso-lateral penis, resulting in curvature of the penis and erectile dysfunction, is termed

Answer 30

Peyronie disease ``` Risk factors include genetic predisposition, trauma to the penis, smoking, alcohol consumption, history of diabetes or hypercholesterolemia ```

Question 31

________ are circumscribed, thickened plaques over the dorsal aspects of the interphalangeal joints. Many patients have coexisting palmar, plantar, or penile fibromatosis

Answer 31

Knuckle pads

Question 32

_________ is a rare form of benign digital fibromatosis consisting of symmetric, painless, circumscribed swelling of the proximal interphalangeal joints of the fingers, often sparing the thumb

Answer 32

Pachydermodactyly may be associated with tuberous sclerosis, atrophia maculosa varioliformis cutis (noninflammatory pitted scarring, usually on the face) and carpal tunnel syndrome

Question 33

_______ is a benign, self-limiting proliferation of fibroblasts of uncertain etiology that often follows trauma, observed most frequently on the upper extremity rapidly growing, painful mass (generally less than 2 cm) in the subcutis, fascia, or muscle

Answer 33

Nodular fasciitis Cranial fasciitis is the most common variant in children and involves the head and neck.

Question 34

______ is a rarely diagnosed, benign, fibroproliferative, soft-tissue tumor that occurs predominantly in the periscapular region of middle-aged to elderly women

Answer 34

Elastofibroma poorly circumscribed, rm, mobile mass; typically, the lesions are concealed with retraction and protuberant with protraction of the shoulders

Question 35

keratotic papule acquired in adulthood, often on the digits or occasionally the palms/ soles

Answer 35

acquired digital fibrokeratoma (acral fibrokeratoma)

Question 36

1–2 cm, ill-defined, indurated plaque, most commonly seen in young women on the shoulder or upper arm

Answer 36

dermatomyofibroma

Question 37

solitary and appear in middle-aged to older individuals. They are generally nondescript, slow-growing, dome-shaped, or polypoid lesions with a predilection for the extremities

Answer 37

pleomorphic fibroma

Question 38

benign tumor that appears as a slow-growing, painless, mobile mass (1–20 cm) located in the subcutaneous tissue or just deep to skeletal muscle. This tumor has a predilection for the upper arm and shoulder

Answer 38

collagenous fibroma (desmoplastic fibroblastoma)

Question 39

tumor that some consider of vascular origin When solitary or multiple in the skin, the prognosis is excellent, with spontaneous regression in some cases These tumors have a wide distribution, but are often on the extremities in adults and are painless

Answer 39

myofibroma

Question 40

Histologically, there are dilated vessels, sometimes staghorn (some consider solitary fibrous tumor and hemangiopericytoma to be part of a spectrum), with interspersed spindle cells that are arranged in a “patternless” pattern. Cells are CD34+

Answer 40

solitary fibrous tumor

Question 41

often at puberty, and when primary, affects males more commonly. The scalp appears folded, with furrows run- ning anteriorly to posteriorly. Primary disease is idiopathic or associated with neuropsychiatric disor- ders

Answer 41

cutis verticis gyrata

Question 42

_________ is a rare genetic syndrome with most cases having autosomal dominant transmission. At puberty, there is progressive enlargement of the joints due to pachydermia, periostosis, and clubbing. Other features include thickened skin on the face and scalp (resembling cutis verticis gyrata), palmoplantar hyperhidrosis, and acro-osteolysis

Answer 42

Pachydermoperiostosis (primary hypertrophic osteoarthropathy)

Question 43

In patients with Proteus syndrome, the soles (and sometimes the palms) have cerebriform overgrowth with gigantism

Answer 43

cerebriform fibrous proliferation