Congenital Diseases of the Skin

Wortsman, Ximena; Wortsman, Jacobo; Aranibar, Ligia

doi:10.1007/978-1-4614-7184-4_3

Ximena Wortsman MD²,
Jacobo Wortsman MD³ &
Ligia Aranibar MD⁴

2017 Accesses
4 Citations

Abstract

This chapter reviews common congenital diseases that can challenge the clinical diagnoses and can be supported by ultrasound. Thus, congenital pits, fistulae, cysts, hemangiomas, vascular malformations, aplasia cutis, neurofibromatosis, and ichthyosis are among the entities that are covered in this chapter.

Common congenital conditions that may challenge the diagnoses or follow ups

Access provided by Autonomous University of Puebla. Download chapter PDF

Ultrasound of Congenital Cutaneous Conditions

Treatment Principles of Skin Malformations

Malformations and Genodermatoses

Keywords

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

1 Introduction

Congenital disorders of the cutaneous layers and appendages are most often hereditary and are associated with extracutaneous alterations, as components of complex syndromes, and are expressed clinically at birth or early infancy; once the linkage to specific gene mutations has been established, the disorders are classified as “genodermatoses” [1]. Developmental alterations of the skin generally exhibit marked pleomorphism, affecting single or multiple body segments, with dermatome(s) restrictions characteristic for some disorders [2]. Because multi-structural involvement is common and can be non-discernable clinically on imaging studies, ultrasound may become particularly essential for both diagnosis and follow-up of these patients.

2 Pathology

2.1 Pits, Fistulae, and Sinus

These congenital malformations of the head and neck result from the failure to close of the first and second branchial arches that form the external ear canal; inheritance is autosomal dominant incomplete, with low penetrance and variable expression [1]. Defective arch closure results in the formation of unilateral or bilateral pits, sinuses, or fistulae in front of the pinna, varying in size from small dimples (preauricular pits) to large and deep lesions (sinuses or fistulae). Sonography of the skin, in addition to determining the lesion relationships to regional anatomic landmarks (superficial temporal artery, anterior crus of the helix or tragus), can accurately assess lesion extension delineating sinusal tracts that show as hypoechoic structures with occasionally inner echoes from debris and peri-lesional increases in vascularity. Clinically, preauricular pits present as shallow invaginations on the skin anterior to the border of the crus of the helix (auricular cartilage) that may chronically discharge foul-smelling cheesy desquamated keratin debris. Preauricular fistulae or sinuses are deeper than the pit and lined by stratified squamous keratinizing epithelium; they may present with recurrent swelling from episodes of infection and purulent discharge. When the preauricular sinus opening is occluded, the sinusal cavity becomes dilated and turns into a cyst. Approximately 3–10 % of preauricular sinuses are manifestations of complex disorders, in particular, deafness and branchio-oto-renal (BOR) syndrome; thus, auditory testing and renal ultrasound should be considered at the time of diagnosis. While surgery is the preferred treatment, patients without pre-surgical ultrasound have recurrence rates of 9–42 %; in contrast, pre-operative planning that includes ultrasound has not been associated with reports of recurrences [2–4] (Figs. 3.1 and 3.2).

2.2 Cysts

2.2.1 Branchial Clefts or Cysts

Brachial clefts or cysts are also the result of improper closure of branchial archs (most commonly the second arch), appearing as lesions in the upper neck, usually along the sternocleidomastoideus muscle. When presenting as cystic formations, they can drain externally or internally to the pharynx [4]. In most cases the sonographic appearance is that of well-defined cysts with wall thicknesses that range from almost imperceptible to very thick. Most commonly, cysts are anechoic and unilocular; hypoechoic forms with internal echoes or even hyperechoic with a pseudosolid appearance have also been described, and a multiloculated appearance with septations may occasionally be seen. The posterior acoustic enhancement typical of cystic entities is detected in up to 70 % of the lesions. Branchial clefts or tracts, usually seen as hypoechoic tortuous bands, can be connected to a cyst with or without debris, or septations [5, 6] (Fig. 3.3).

2.2.2 Thyroglossal Cysts or Ducts

Thyroglossal cyst or duct anomalies result from defective migration of thyroid tissue from the base of the tongue to the anterior-lower neck, and may present as localized swelling in children or young adults. Cyst locations range from the tongue and submandibular regions to the suprahyoid area, hyoid bone, or infrahyoid region. On sonograms, thyroglossal cysts are well-circumscribed round or oval-shaped structures in the anterior neck close to the midline, most commonly anechoic, but hypoechoic; mixed patterns can also be seen. Most cysts have thin walls and show posterior acoustic enhancement; debris content noted occasionally represents proteinaceous secretion by the epithelial lining [7–9] (Fig. 3.4).

2.2.3 Broncogenic Cysts

Broncogenic cysts are cutaneous sequestrations of the respiratory epithelium and present as mostly asymptomatic solitary nodules; malignant transformation is exceptional, and sometimes they have connecting tracts to the epidermis that drain mucoid secretion. Broncogenic cysts are usually located in the supraesternal region, and rarely in the lateral neck or even the scapular region. On sonograms, the lesions are thick-walled, round- or oval- shaped, anechoic, or hypoechoic lesions. When the lesions become inflamed, vascularity can be increased at the periphery of the cysts [10–12] (Fig. 3.5).

2.2.4 Dermoid Cysts

Dermoid cysts are typically found along the skull bone fusion lines (e.g., anterior fontanel, lateral frontal region, tail of the eyebrow, or submandibular region) presenting as non-tender and firm nodules, with sometimes bluish discoloration of the covering skin. Imaging studies are mandatory in dermoid cysts of the midline (nose, occipital region, or vertebral spine) to exclude the presence of tracts connecting to the central nervous system. At ultrasound examination the cysts are round or oval-shaped, anechoic, or of mixed echogenicity (anechoic- hypoechoic) sometimes with thick walls and with increased vascularity at the periphery when inflamed (Figs. 3.6 and 3.7). At times, floating bodies can appear in the cystic fluid that represent hypoechoic fat lobules, also called the “sac-of- marble” sign. Calcium deposits can also be found within dermoid cysts and show as hyperechoic deposits with fluidic movements upon compression [13–15].

2.3 Hemangiomas of Infancy and Congenital Hemangiomas

Hemangiomas of infancy or common hemangiomas, the most frequent tumors found in infants, appear shortly after birth and go through an active growth phase over the first 2 years, ending in a slowly evolving involutional phase. Hemangiomas consist of localized endothelial proliferations in superficial or deep skin layers that can be highly localized segment-restricted tumors, or distributed through multiple locations. Hemangiomas are sometimes manifestations of dysmorphic conditions, such as in PHACES syndrome (posterior fossa malformations, hemangiomas of the cervicofacial region, arterial anomalies, cardiac anomalies, eye anomalies, and occasionally, sternal defects). The most common brain abnormality associated with PHACES is the Dandy–Walker malformation (of the cerebellar vermis), although hemangioma-associated anomalies may affect all the major cerebral arteries; coarctation of the transverse aorta in the great vessels is the most common arterial anomaly, and congenital heart defects, optic nerve hypoplasia, and abnormal retinal vessels have been also described. Complications of hemangiomas of infancy include ulceration, bleeding, infection, and scarring [16, 17].

The term “congenital hemangioma” was introduced to denote other less common types of hemangiomas that attain maximal size at birth without further postnatal growth. These tumors are classified according to their postnatal evolution into RICH (rapidly involuting congenital hemangiomas) and NICH (non-involuting congenital hemangiomas). RICH are more common, with the majority disappearing completely by the age of 12 months; NICH display a pattern of growth proportional to the physical growth and require eventual excision. RICH and NICH test negative for the endothelial tissue marker glucose transporter-1 protein, also called GLUT-1. This differs from the common hemangioma of infancy that tests positive for the same marker. RICH and NICH generally present clinically as large masses in the head or near a joint in the limbs with violaceous discoloration, prominent venous vessels, and telangiectasias [17, 18]. On histology, RICH are composed of variably sized vascular conglomerates around a central draining vein and adjacent fibrosis usually without microfistula or hobnailed endothelium. NICH commonly present as large conglomerates of small vessels with arteriovenous or arteriolymphatic microfistulae or hobnailed endothelial cells, often with regressive endothelial changes such as dystrophic calcifications and fibrosis [19]. On ultrasound, both hemangiomas of infancy and congenital hemangiomas appear as ill-defined masses, but congenital hemangiomas usually consist of a single large tumor. The sonographic appearance of hemangiomas of infancy depends on the activity phase: in the active growth phase the highly vascular proliferating tumoral areas appear hypoechoic, while the pattern becomes heterogeneous during the involution phase to end as a mostly hyperechoic and hypovascular or avascular structure (Figs. 3.8, 3.9, 3.10, and 3.11). Arterial and venous blood flow are usually detected within common hemangiomas of infancy, but arteriovenous shunts (arterialized venous flow) are typical of the proliferative phases. Calcifications (phleboliths), which are rarely founded in common hemangiomas of infancy, are more common in congenital hemangiomas. [19].Of interest, both RICH and NICH may show on color Doppler prominent venous vascularity that may extend to the local muscles that become swollen and congested, hardening the tumor to palpation, sometimes simulating a malignant tumor (Figs. 3.12 and 3.13). Therefore, variations in echogenicity, type of vessels, and presence or absence of calcifications, albeit subtle, can tilt the diagnosis in borderline cases toward common hemangioma of infancy or RICH/NICH congenital hemangiomas [20, 21]. Ultrasound is also important in evaluating the involvement of deeper structures such as tendons, muscles, cartilage, or bone.

2.4 Vascular Malformations

Vascular malformations (VM) present as localized or diffuse defects that reflect defective morphogenesis and do not correspond to actual vascular tumors. The overall incidence of VM is 1.5 %, evenly distributed by sex and race; approximately two thirds are venous, and one third are arterial, capillary, lymphatic, or mixed. According to blood flow velocity, VM can be classified into high-flow (i.e., arterial and arterio-venous lesions), and low-flow (i.e., venous, lymphatic, and capillary entities) [22–25].

Unlike hemangiomas, VM remain basically unchanged after birth and are characterized by progressive ectasia of vascular structures resulting from increases in vessel diameter. Venous structures can be more selectively affected in complex congenital syndromes that include Sturge-Weber (angiomatosis encephalotrigeminal) and Cobb (cutaneomeningospinal angiomatosis) syndromes, as well as the Cutis Marmorata Telangiectatica Congenita, Phacomatosis Pigmentovascularis, Blue Rubber Bleb, Parkes-Weber, Maffuci, Klippel-Trenaunay, and Proteus syndromes (Table 3.1) [22].

Table 3.1 Congenital syndromes associated with vascular malformations [22]

Full size table

VM are generally attributed to sporadic mutations; for example, in Klippel-Trenaunay syndrome, the associated genetic defect is the translocation t (8; 14) (q 22.3; q 13), whereas in the Proteus syndrome there appears to exist a mosaic expression of an activating mutation in AKT1 kinase [22]. The histology of VM shows normal-appearing endothelium, with the vascular expansion related to hypertrophy and not hyperplasia of the vascular tissue.

On color Doppler ultrasound, VM are seen as tubular anechoic structures (arterial, venous, arterio-venous), pseudocystic anechoic structures (arterial, venous or lymphatic), or focal hyperechoic areas without discernible vessels (capillary) (Figs. 3.14, 3.15, 3.16, 3.17, and 3.18). Flat capillary lesions such as Port Wine stains can sometimes appear as dermal areas of low echogenicity or as focal hyperechoic spots or refringence areas in the epidermis; nevertheless, when the lesions are extremely flat and superficial they ultimately may become undetectable on ultrasound. Phle-boliths are seen as hyperechoic calcified spots and often present point to venous origin which can be further supported by the addition of spectral curve analysis to determine type and velocity of the blood flow, whereas pressure with the probe may also help by identifying the easily compressible venous malformations. VM are occasionally complicated by thrombosis (especially venous), that can be detectable on ultrasound as hypoechoic material within the lumen with absent flow on spectral curve analysis and lack of compressibility under probe pressure. VM may also produce local areas of subcutaneous fat hypertrophy or musculoskeletal overgrowth related to the chronic increase in blood flow and more rarely, result in segmental cutaneous atrophy. These reactive phenomena are readily detectable with ultrasound.

2.5 Aplasia Cutis

As implied by the name, aplasia cutis (AC) is characterized by the local absence (partial or total) of skin at birth; it affects more often the scalp especially the parietal regions. AC is a single lesion in 70 % of the patients, affecting multiple areas in the remaining 30 %. AC lesions involving the midline are considered markers for an incomplete fusion of the neural tube [26, 27]. AC generally present clinically as small round or starry erosion or ulceration with superficial scarring, as blisters draining serous fluid, or as a cutaneous defect or depression covered by a thin and bright membrane (membranous aplasia cutis) [28]. AC is rarely associated with an underlying bony defect that could potentially increase the rate of complications [29]. Sonography in AC usually shows subcutaneous tissue atrophy, dermal hypoechogenicity, and sometimes thinning of the dermis (Fig. 3.19). Although unusual, it is important to exclude the occurrence of subjacent bony defects under the cutaneous lesion, particularly in the scalp; because the meningeal layers can be in direct contact with the dermis, which can be a potential threat for the development of meningitis.

2.6 Buske-Ollendorf Disease

Buske-Ollendorf disease, also called lenticular dermatofibrosis, is a genetic condition with an autosomal dominant pattern of inheritance, and results from mutations in the gene LEMD (12q14). Clinically, it is characterized by the presence of yellow colored skin papules in the dorsum of the hands, trunk, gluteal and lumbosacral regions [30–34]; furthermore, x-ray projections show isolated bony condensations or sclerosis (osteopoikilosis or osteopathia condensans disseminate) most commonly in the epiphyseal and metaphyseal regions of long bones, or in local clusters in the carpal or tarsal bones [35]. Sonography of the papules shows focal hypoechogenicity with dermal thickening, and usually, a hypovascular pattern on color Doppler ultrasound studies (Fig. 3.20).

2.7 Lipoid Proteinosis

Lipoid proteinosis, also called lipoidoproteinosis or Urbach-Wiethe disease (U-W), represents an autosomal recessive genetic disorder apparently caused by a mutation in a gene localized in chromosome 1q21 that codes for ECM1, a protein in the extracellular matrix [36]. Clinically, it appears as white or yellow papules in the tongue, lips, and vocal cords that results in hoarseness and weak crying. It is manifested during infancy by vesicles and hemorrhagic crusts on the face, trunk, axilla, groin, elbows, dorsum of the hands, palm of the hands, and/or soles of the feet and extremities; upon healing, the lesions may leave varioliform scars or yellow-colored hyperkeratotic plaques. Involvement of the scalp can result in scarring alopecia. Lipoid proteinosis can result in blending of the papules (moniliform blepharosis) in the free border of the eyelid. This condition can also manifest by the production of hyaline deposits in the cornea, conjuntival region, and retina (Bruch’s membrane) resulting in corneal opacities and secondary glaucoma from disruption of the trabecular meshwork. Diffuse lesional infiltration of the pharynx and larynx may result in dysphagia and respiratory insufficiency [37–40].

Sonography of the papules shows localized thickening and hypoechogenicity of the dermis or equivalent submucosal regions. On color Doppler ultrasound, blood flow can be increased overall within the lesional tissue, although typically with slow-flow vessels. Hyperechogenicity from lesional involvement of the vocal cords (deposits of lipoproteins) may explain the occasional development of dysphonia (Fig. 3.21). Skull radiographs and CT may show comma-shaped intracranial calcifications in the temporal regions [41].

2.8 Neurofibromatosis

Neurofibromatosis (NF) belongs to the group of phakomatoses (i.e., hereditary developmental anomalies of ectodermal tissues), and are nerve tumors that appear as hamartomas disseminated throughout the skin [42–46]. The genetic mutations causing NF occasionally occur de novo; the inheritance is autosomal dominant with variable penetration [42, 43].

Although eight different subtypes of NF have been recognized, NF-1 and NF-2 account for 99 % of cases. NF-1 (von Recklinhausen’s disease), the most common presentation, is characterized by the presence of multiple café-au-lait spots in the skin, peripheral neurofibromas, and pigmented hamartomas of the iris (Lisch nodules). NF-2 accounts for 10 % of cases and affects the central nervous system in addition to the skin, inducing bilateral acoustic neurinomas, meningiomas, and spinal tumors [44].

Morphologically, there are three forms of presentation of cutaneous neurofibromas: localized, plexiform, and diffuse. Localized neurofibromas appear sonographically as ovoid or fusiform hypoechoic nodules, and although originating from a neural tract in only 50 % of cases, it is possible to define the central afferent and efferent neural branches of the nodule. Thus, the difficult differential diagnosis with another neurogenic tumor, schwannoma may be possible when eccentrically located afferent and efferent tracts characteristic of the latter tumor, are clearly identified sonographically. Vascularity of localized neurofibromas ranges from hypo- to hypervascular on color Doppler ultrasound; the presence of increased vascularity may be associated with hemorrhagic episodes appearing as highly localized fluid-containing anechoic areas within the lesions (Fig. 3.22).

Because plexiform neurofibromas involve long nerve segments and branches, the tumors adopting a serpentine structure are better described as “bag of worms”. Ultrasound shows the affected nerves and branches as multiple and tortuous hypoechoic tracts, commonly hypovascular on color Doppler ultrasound (Fig. 3.23).

Diffuse neurofibromas are characterized by infiltrative tumoral growth into the subcutaneous and dermal tissues, with entrapment of structures normally traversing those layers. Sonograms usually show multiple tubular tracts or nodules that are hypoechoic and sometimes interconnected, surrounded by hyperechoic tissue in a plaque-like appearance; anechoic ductal structures may be evident within the lesional tissue. Blood flow patterns ranging from hypo- to hypervascular can be seen on color Doppler ultrasound (Fig. 3.24).

Histology shows a myxoid stroma infiltrated by tumoral cells and fibroblasts with occasional prominent vessels. In the diffuse form of NF, atypical Schwann cells with short fusiform contours are interspersed within a uniform matrix of fibrillar collagen [45–47].

2.9 Neural Fibrolipomatosis

Neural fibrolipomatosis is considered a congenital tumor of the peripheral nerves (hamartoma) which undergo secondary adipose tissue infiltration. Most frequently it affects the median nerve (85 %), but may occasionally involve the acoustic, brachial, ulnar, and radial nerves or small nerve branches in the extremities [48, 49]. Clinically, neural fibrolipomatosis presents with diffuse or localized swelling adjacent to the affected nerves. It is associated with Lipomatous Macrodystrophia, a syndrome with circumscribed overgrowth of mesenchymal tissue that can, for example, affect the fingers (macrodactyly) [50–52].

Sonography shows the enlargement of small cutaneous nerve branches as hypoechoic tracts within the dermis and subcutaneous tissue, usually without accompanying hypervascularity on color Doppler. Involvement of larger nerves may also be detected (Fig. 3.25).

2.10 Ichthyosis

Ichthyosis is a heterogeneous group of disorders of epidermal cornification, both inherited and acquired, that share the manifestations of generalized hyperkeratosis and/or scaling of the skin. Vulgar ichthyosis is the most common form, and also the mildest form, characterized by only slight scaling that spares the intertriginous areas and face. More severe forms of ichthyosis include X-chromosome linked recessive icthyosis, lamellar icthyosis, bullous erythrodermic icthyosis, and Harlechin-type icthyosis, that present with ectropion (eversion of the eyelids) of varying degrees, eclabion (eversion of the lips), and hypoplasia of nasal and auricular cartilages. The scalp can be covered with thick scales and also palmoplantar keratoderma (thickening of the skin of the palms and soles) and ungual dystrophies such as onychogriphosis (thickening and increased curvature of the nail), ungual keratosis (thickening of the ungual plates), and ungual fissures or sulcus that may also involve the skin. As a functional consequence of the cutaneous alterations, there can be severe interference with the perspiration process resulting in hyperthermia, hypothermia, or dehydration; there is even an increased potential for the development of toxic effects while using topical dermatologic products [53]. The skin manifestations of ichthyosis are amenable to examination and quantification with ultrasound and thus, it is possible to objectively assess the results of commonly used systemic and topical therapies.

Congenital autosomal recessive ichthyosis (CARI) or lamellar variant results from mutations in at least three chromosomal loci. This is generally compatible with normal life expectancy. It has an unusual phenotype typically diagnosed at birth by a characteristic appearance: babies with CARI are born with marked erythrodermia encased in a collodion-like membrane that appears as an extra layer of skin (babies with collodion); the membrane is shed in 2–3 weeks and replaced with darker brownish-gray color scales [54, 55]. Histology shows epidermal hyperkeratosis and hyperplasia. The unremarkable granular layer of the epidermis does not show signs of inflammation.

The Harlequin-type ichthyosis is of particular interest because it can be diagnosed sonographically while still in utero with the finding of “uneven skin” on prenatal ultrasound [56–61]. Postnatal ultrasound of the skin displays diffuse epidermal thickening with hyperechogenicity; there is also diffuse thickening of the nail plates in all fingernails and toenails with absent interplate space (the hypoechoic space that normally separates the ventral and dorsal ungual plates). The epidermis of the plantar regions appears as a single thick hyperechoic layer instead of the normal bilaminar pattern. Blood flow is generally normal (Fig. 3.26) [62].

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Department of Radiology and Dermatology, Institute for Diagnostic Imaging and Research of the Skin and Soft Tissues, Clinica Servet, University of Chile, Faculty of Medicine, Almirante Pastene 150, Providencia, Santiago, Chile
Ximena Wortsman MD
Department of Medicine, Southern Illinois University School of Medicine, 3128 Temple Drive, Springfield, IL, 62704, USA
Jacobo Wortsman MD
Department of Dermatology, Hospital Clínico Universidad de Chile, Faculty of Medicine, University of Chile, Santos Dumont 999, Santiago, 8380456, Chile
Ligia Aranibar MD

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Ximena Wortsman MD
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Jacobo Wortsman MD
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Ligia Aranibar MD
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Correspondence to Ximena Wortsman MD .

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Clinica Servet, Faculty of Medicine, University of Chile, Almirante Pastene 150, Santiago, 7500551, Chile
Ximena Wortsman

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Wortsman, X., Wortsman, J., Aranibar, L. (2013). Congenital Diseases of the Skin. In: Wortsman, X. (eds) Dermatologic Ultrasound with Clinical and Histologic Correlations. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-7184-4_3

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DOI: https://doi.org/10.1007/978-1-4614-7184-4_3
Published: 17 May 2013
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-7183-7
Online ISBN: 978-1-4614-7184-4
eBook Packages: MedicineMedicine (R0)

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Congenital Diseases of the Skin

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