Section 17. Disorders of the Dermis (Infiltrates, Atrophies, and Nodules)

There are conditions that take the title localized scleroderma but are not related to progressive systemic sclerosis. They are marked by areas of hardened skin, small or large, scattered or localized, single or multiple, and of variable shape. Here illustrated is morphea in the form of several discrete lesions of different shapes, all confined to the skin on the left side of the chest. The lesions are firm and atrophic.

This kind of morphea is highly characteristic. The solitary or individual lesion of the condition is a circle or oval of firm skin that is whitish, slightly depressed, and surrounded by a different color that is lilac or purple. There may be only one such lesion of moderate size or many of about the same size or very large ones covering large areas of skin. The course of the condition is variable too. Spontaneous recovery in children is common.

Illustrated is a type of morphea that is linear in shape and situated on the flexor aspect of a leg, extending from the medial aspect of the thigh through the popliteal space to near the Achilles tendon. Again the affected skin is hard, slightly depressed, and dyschromic. Extensive areas of linear morphea are the most difficult to treat. There is a tendency toward permanent deformity in the form of atrophy or contractures.

Here is another kind of hardened skin in the form of a depression, as though the result of a blow from a blunt instrument or a weapon like a saber. Location on one side of the brow is highly characteristic. Such lesions are seen with no other associated anomaly or as part of hemiatrophies. Atrophy or absence of subcutaneous fat is also part of such a process. Seizures may occur.

Illustrated here are lesions of morphea resolving. From an appearance like that in Fig. 17-2, the lesion has become brown although there is still some central sclerosis noted (Fig. 17-5). Figure 17-6 shows a lesion that is now reddish-brown that has risen to the level of the surrounding skin and will eventually nearly completely resolve or leave minor dyschromia. The cause of circumscribed scleroderma of any form is unknown.

Sometimes morphea can be more extensive and involve large areas of the integument. The lesions tend to be of plaque-type, beginning with erythematous to violaceous plaques that become sclerotic centrally with an ivory color (Fig. 17-7). Sometimes only hyperpigmentation can be discerned. These lesions may enlarge peripherally becoming quite extensive. Scarring may result in severe disability in some instances, but these patients do not have systemic sclerosis. When involvement occurs on the extremities (Fig. 17-8), contractures and atrophy may result.

This condition is most common in adolescent girls, and its etiology is completely unknown. Characteristically, there develop single or multiple well-circumscribed, slightly hyperpigmented areas of cutaneous atrophy, with a sharp “cliff-drop” border. The lesions tend to enlarge slowly and then persist. Some believe that this form of atrophoderma represents a variant of morphea, in which atrophy is more evident than is sclerosis.

These two figures illustrate lichen sclerosus et atrophicus in its most typical location. This cutaneous disorder is more common in girls and is usually confined to the skin surrounding the anogenital region. The onset of the disease may be accompanied by pruritus, burning, constipation, or vaginal discharge, or it may be completely asymptomatic. Porcelain-colored or slightly erythematous macules gradually coalesce to form plaques. The end result is an area of shiny atrophy in an hourglass shape around the rectum and vagina. Childhood lichen sclerosus et atrophicus tends to be a self-limited disease, with improvement occurring at the time of puberty or may persist into adulthood. The use of topical corticosteroids provides some symptomatic relief and may hasten the resolution of the process.

In Fig. 17-12, discrete and confluent ivory-colored macules are shown on an area of skin that might be of the trunk, arms, or thighs. Extragenital lesions tend to be asymptomatic. Figure 17-13 illustrates lichen sclerosus et atrophicus involving the ankle, which is not an unusual location. Another common site is the male genitalia, especially the foreskin and glans penis. The result may be a nonretractable foreskin, or stenosis of the urethral meatus. It appears that lichen sclerosus et atrophicus may be a common cause of phimosis in young boys.

This is a form of lichen sclerosus et atrophicus affecting the penis. It usually presents as recurrent balanitis, associated with redness, tightening, and fissuring of the foreskin. Eventually, the disease process may result in phimosis and difficulty in urination. In many cases, circumcision is either very helpful or curative. However, involvement of the glans penis may persist after surgery. Although this disorder is generally rare, it is not an unusual finding among young boys who present with phimosis.

The term anetoderma, meaning slack skin, is most often used to describe a form of cutaneous atrophy that has no clear preceding cause. Anetoderma is divided into two clinical types. The Jadassohn form of anetoderma, most common among girls, is characterized by the eruption of round, slightly erythematous macules over large areas of the trunk and proximal extremities. The lesions quickly evolve into small areas of atrophy, each with an outpouching of shiny white skin (Fig. 17-15). The second form of anetoderma bears the eponym Schweninger-Buzzi. This form, illustrated in Fig. 17-16, is distinguished by the slow evolution of lesions that arise without any preceding inflammation.

Here is another illustration of idiopathic macular atrophy. In this patient, the lesions arose with no evidence of prior inflammation. Occasionally, skin changes that are similar to the primary anetodermas can be seen as a sequela of sarcoidosis, granuloma annulare, Hansen's disease, secondary syphilis, or penicillamine therapy. In either situation, the biopsy analysis reveals the localized loss of elastic tissue.

Ruptures within the dermis in the lines of cleavage of the skin that are not associated with obvious external trauma are common in pregnancy and obesity. In pregnancy, mechanical stretching of the skin by the developing fetus and its housing and, in obesity, extreme storage of fat can be taken to be the causes enough for dermal ruptures; but a factor of endocrinopathy or idiopathic response to hormone balance also seems to be operative. Striae are commonly seen in healthy adolescents and may be found on the back, around the breasts, upper arms, hips, inner thighs, and around the popliteal fossae. Athletes, particularly weight lifters, sometimes show striae distensae, and again, mechanical stretching and idiopathic hormonal influence may be adduced in explanation, since the phenomenon is not universal. In Fig. 17-18, one sees striae on the back that may well be of a weight lifter. Figure 17-19 shows striae and telangiectasia in a patient who is and has long been on topical corticosteroids for good reason. The hormonal influence in the latter case is indubitable.

This group of hamartomas may be composed of various elements of the extracellular connective tissue: collagen, elastic fibers, and glycosaminoglycans. One example of the collagen variety is the shagreen patch, a cutaneous manifestation of tuberous sclerosis (Fig. 11-51). These yellow or orange plaques of coalescent papules are often seen in the lumbosacral area. Other varieties of connective tissue nevus are not associated with tuberous sclerosis and may be seen elsewhere on the body. Particularly, collagenomas may be seen in solitary (Figs. 17-20 and 17-21), eruptive, and multiple forms. The last of these is a familial disorder. Elastic fibers are found in isolated elastomas and in the small yellowish papules of the autosomal dominant Buschke-Ollendorf syndrome (Fig. 11-54). The latter is also characterized by asymptomatic sclerotic densities of the bones.

This benign condition is characterized by one or more circular plaques consisting of rings of papules around a depressed center. Figure 17-22 is most typical; Fig. 17-23 is somewhat variant. The hands and feet are the commonest sites for the lesions of granuloma annulare. One or two lesions are the usual number. Occasionally, eruptive and widespread lesions are seen. For the most part, granuloma annulare is not associated with any other disease, nor is there any known cause. The condition is symptomless. It has been known to vanish spontaneously after a procedure such as a biopsy of part of it. Topical or intralesional corticosteroids are a standard therapy. Parent and child should be warned that the lesions may persist for months or years before response to therapy or spontaneous resolution. Lesions may also recur.

There is a form of granuloma annulare that presents with deep nodules. A more typical annular lesion may overlie the nodule or may be present at another anatomic site. These lesions are most frequently localized to the digits, scalp, dorsa of the feet, or anterior tibial region.

This generalized form of the disease is more unusual. It presents with numerous flesh-colored or pink-red papules. In some cases, they coalesce into round or reticulate clusters. A subtle annularity, especially noted on palpation of a lesion, may be the clue to diagnosis. In most children, eruptive granuloma annulare favors the trunk, but it is occasionally seen in a photodistribution. In children, this disorder does not appear to be associated with any systemic illness.

This is a common and completely benign cutaneous nodule. Typically, a juvenile xanthogranuloma is firm and dome-shaped. At first, the lesion is reddish as in Fig. 17-26, but develops a fairly typical orange-brown hue over time (Fig. 17-27). Most juvenile xanthogranulomas are located on the head or neck, as pictured in these two infants, but the lesions sometimes occur on the trunk or extremities. They may be present at birth, but most develop during the first year of life. Juvenile xanthogranuloma is not associated with abnormalities in serum cholesterol or triglycerides, and the individual lesions undergo spontaneous involution, usually over a period of 1–2 years. A diagnostic biopsy analysis is sometimes needed, but surgical intervention beyond this is certainly not required. Multiple juvenile xanthogranulomas on the skin may be accompanied by intraocular lesions. For this reason, the physician must pay careful attention to the examination of the eyes. An abnormality in the color of the iris or an enlargement of the globe should trigger a prompt ophthalmologic referral.

Figure 17-28 shows four lesions. It is somewhat more common to see multiple juvenile xanthogranulomas than a solitary lesion. Rarely, they may number in the hundreds. As mentioned, xanthogranuloma of the eye is the most common complication of this generally benign and self-limited condition. When multiple small juvenile xanthogranulomas are seen in children with neurofibromatosis, these patients have an additional tendency toward the development of juvenile chronic myelocytic leukemia. Rarely juvenile xanthogranulomas may become agminated and appear as a plaque (Fig. 17-29).

These are benign dermal nodules that represent a focal proliferation of fibroblasts; the overlying epidermis is slightly thickened. Their occurrence is not unusual in children and adolescents. Dermatofibromas are firm and may be black, red, brown, or flesh-colored. Their diameter generally ranges from 0.5 to l.5 cm, although they may occasionally be larger. Dermatofibromas may be solitary or multiple, and they develop either spontaneously or after minor trauma to the skin, such as an insect bite. Most are asymptomatic but sometimes may be painful on palpation. A very useful diagnostic maneuver is executed by exerting lateral pressure on the lesion. The skin overlying a dermatofibroma will frequently dimple. Dermatofibromas require surgical treatment only when they are of cosmetic concern to the patient. However, biopsy analysis is occasionally required in order to confirm the diagnosis and to differentiate it from more serious disorders.

These are unusual nodular lesions that vary from 0.5 to 3.0 cm in diameter. They may be single (Fig. 17-32) or multiple (Fig. 17-33) and are firm, elevated, and circumscribed. The tongue is a common site. The lesions pictured here are fairly typical of the cutaneous variety. The original name granular cell myoblastoma derived from an early theory that these tumors arise from immature striated muscle cells. In fact, granular cell tumors are of neural derivation. The condition is usually benign and lends itself to any form of extirpation.

This very distinctive eruption consists of numerous brownish-yellow macules and papules involving the head and neck. The mucous membranes are spared. Benign cephalic histiocytosis usually begins during the first 3 years of life, and the lesions continue to evolve for several years. The condition then resolves spontaneously during childhood but may leave small atrophic or pigmented scars. These children do not develop systemic disease and are not at risk for Langerhans cell histiocytosis. Electron microscopy of the histiocytic infiltrate reveals comma-shaped bodies in the cytoplasm.

The lesions pictured here are typical of the disfiguring changes that sometimes occur after trauma to the skin. In children, a laceration, a surgical procedure, or a bout of chicken pox may be the inciting event for keloid formation. Figure 17-36 shows a keloid that was caused by ear piercing. Keloid formation is more common in African American children, is very rare in infants, and becomes somewhat more frequent with increasing age. Keloids begin as firm, telangiectatic plaques confined to the site of the initial wound. Over time, they become less erythematous and extend beyond the site of injury. Pruritus, burning, and hyperesthesia are frequent complaints. In contrast to hypertrophic scars, keloids extend beyond the limits of the original scar and do not resolve spontaneously. In fact, they may continue to grow over a period of years. The monthly intralesional injection of corticosteroids is currently the preferred treatment for most keloids; however, newer treatment modalities such as silicon gels or sheets, retinoic acid, imiquimod, and others have been shown to have some efficacy. Surgical excision will almost always result in recurrence but is somewhat more successful when accompanied by the injection of corticosteroids.

The keloid pictured here is a common variety that develops after a thermal burn. The irregular contour and crab-like projections are characteristic and illustrate the root of the word keloid: from the Greek word chele, meaning crab's claw. The size and thickness of lesions of this type make treatment difficult. The chest and back are also common sites for keloids of another cause, namely, inflammatory acne. In that situation, repeated injections of intralesional corticosteroids are often of cosmetic benefit.

This benign growth may be present at birth, or develop during the first 2 years of life. The solitary subcutaneous nodule ranges from 2 to 5 cm in diameter and is sometimes lumpy on palpation. In most cases, the lesion occurs on the axilla, shoulder, upper arm, and chest wall. Other possible sites are the inguinal region and the buttocks. Diagnosis depends on histopathological examination, and the treatment of choice is excision.

This is a rare fibromatosis that starts in infants either as a single nodule or, less commonly, as several nodules. Parents may be alarmed by the rapid growth of the lesions. Digital fibrous tumors usually occur on the dorsal and sometimes on the lateral aspects of the distal phalanges of fingers and toes. They may be globular, red, and smooth, as illustrated in Fig. 17-40, or reddish-brown and convoluted, especially when they wrap around digits, as illustrated in Fig. 17-41. Deformity of the adjacent nail plate may occur. The lesions are benign and have never been known to become malignant or metastasize. Recurrence is a common event after surgical excision, but many such tumors will involute without treatment over a period of several years. In most cases, the best treatment is simple observation.

The majority of lesions present at birth or shortly thereafter. They may be superficial or may involve the subcutaneous tissue and muscle. The typical lesion of infantile myofibromatosis is a rubbery or firm nodule (Fig. 17-42), sometimes measuring up to 7 cm in diameter (Fig. 17-43). Solitary lesions tend to occur on the head and neck, and resolve spontaneously, sometimes leaving areas of atrophy or pigmentary alteration. Children with multiple lesions (the generalized form) are particularly at risk for visceral and bone involvement. While the skin and bone lesions in these children also tend to disappear spontaneously, the visceral lesions (lungs, heart, and gastrointestinal tract) are a significant cause of morbidity and mortality.

This is a set of disorders that are characterized by the accumulation of mast cells in the skin and sometimes in other organs. There is a wide clinical variety. The plaque shown in Fig. 17-44 represents a solitary mastocytoma, which occurs almost exclusively during infancy. This is most often a reddish-brown or orange nodule or plaque that is rubbery in consistency. There is occasionally a history of repeated blister formation on the surface. Figure 17-45 shows the numerous macules and papules of reddish or brownish hue that are typical of urticaria pigmentosa. This generalized form is the most common type of mastocytosis, and it also usually develops during early childhood. The whealing of lesions when they are rubbed (Darier's sign) is virtually pathognomonic for this disorder. Mechanical trauma is thought to degranulate mast cells and cause a local release of histamine. Dermographism in uninvolved skin is not uncommon.

Figure 17-46 is another good representation of the typical lesions of the skin, this time involving papules in great abundance and of red-brown hue. Figure 17-47 shows the same process in an African American infant who, incidentally, has a large mongolian spot on the lower part of the back above the buttocks. Patients who develop urticaria pigmentosa during early childhood tend to have only cutaneous involvement, and their disease will almost always involute over a period of years. No treatment is necessary, but it is important to provide the parents with a list of medications that might cause the sudden and potentially life-threatening release of histamine. These include aspirin, codeine, morphine, polymyxin B, aminoglycosides, and nonsteroidal anti-inflammatory drugs. Immersion in a very hot bath may have the same effect.

This disease form is much less common than urticaria pigmentosa and much more serious. The disease may be present at birth, or begin during infancy. The skin tends to be leathery and thickened as a result of widespread infiltration of mast cells in the dermis. Children suffer from severe recurrent episodes of urticaria and blistering (Fig. 17-48). The blisters vary in size and may be hemorrhagic (Fig. 17-49). The occurrence of bullae may be accompanied by wheezing, diarrhea, hypotension, and shock-like symptoms. In such patients, management of the disease may present a significant challenge. In the newborn, diffuse cutaneous mastocytosis must be differentiated from other blistering disorders, including staphylococcal scalded skin syndrome, and a skin biopsy is mandatory. Familial occurrence of bullous mastocytosis has been reported.

Fat tissue is no more exempt from nevoid anomaly than is any other tissue. Here illustrated is a condition in which fat tissue is redundant and situated high in the dermis, well above its normal position in the hypoderm. The result is papillomatosis of yellowish hue and variable shape. There are no great consequences from the condition beyond the cosmetic, which may be remedied by plastic surgery in cases like the one pictured.

There are several neoplasms of the skin that are notably tender or painful. Leiomyoma is of this class. The intense pain associated with it takes the form of unprovoked paroxysms that reach a crescendo of torture before subsidence. The lesions are fleshy papules or nodules of no great morphologic distinctiveness. They have no malignant potential. Surgical ablation is curative and simple enough for solitary lesions but may be more complicated for numerous and widely spaced lesions such as those illustrated.

This lesion typically presents as a solitary firm plaque, most often located on the trunk and proximal limbs and noted at birth or within the first few weeks of life. The lesions are flesh-colored to slightly erythematous initially but then tend to develop a light brown color. There is usually increased hair growth within the lesion. Histologically, the lesion is characterized by the presence of well-defined bundles of smooth muscle. Firm stroking may elicit fasciculations.

This uncommon skin disorder is characterized by recurrent episodes of red to brown papules and nodules (Fig. 17-54). Most common locations are the trunk and extremities, and the face is usually spared. The crops of lesions may last for several weeks, but larger nodules may be more persistent. Ulceration is not uncommon (Fig. 17-55), and lesions may heal with hyperpigmentation, hypopigmentation, or true scarring. The prognosis of lymphomatoid papulosis is variable. In some patients, there is complete resolution after a single episode, and, in others, recurrences occur for a period of years. In adult patients, there is a significant risk (10–20%) of developing some form of malignant lymphoma. In children, the risk appears to be less, but there are reported cases of lymphomatoid papulosis developing into non-Hodgkin lymphoma.