Pediatric emergency medicine trisk 737
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ophthalmologic consultation should be obtained to exclude other complications such as
retinal vasculitis or retinal vascular occlusion. If other causes are excluded, a child with
a severe headache may be treated for a suspected acute migraine with analgesics and
antiemetics (see Chapters 59 Pain: Headache and 97 Neurologic Emergencies ).
OTHER SYSTEMIC CONNECTIVE TISSUE DISEASES
Scleroderma and Mixed Connective Tissue Disease
Goals of Treatment
The goals of treatment are to control symptoms and allow the patient to maintain
function while simultaneously monitoring for the development of complications.
CLINICAL PEARLS AND PITFALLS
Complications related to juvenile systemic sclerosis (JSSc) should be
considered if a child with localized scleroderma presents with acute clinical
decompensation.
Mixed connective tissue disease is a systemic autoimmune process similar
to SLE and characterized by high-titer anti-RNP antibodies and often
complicated by interstitial lung disease.
Scleroderma
Scleroderma, or hardening of the skin, is most commonly a process restricted to the
skin and subcutaneous tissues in children. Various conditions are included within the
category of scleroderma, as listed in Table 101.4 . Localized scleroderma (LSc) is the
more prominent form found in childhood. The lesions may be one of five types.
Circumscribed morphea is a focal ivory-white patch with a violaceous or erythematous
rim; it is often a single lesion on the trunk, although generalized morphea also occurs in
children. Pansclerotic morphea is circumferential involvement of the limb(s) affecting
the skin, subcutaneous tissue, muscle, and bone. Linear scleroderma causes scarring,
fibrosis, and atrophy that crosses dermatomes. Involved skin develops a “hidebound”
appearance due to tethering of the subcutaneous tissues to deeper structures. It may
extend to involve an entire extremity ( Fig. 101.3 ) and to affect underlying muscle and
bone, leading to flexion contractures, leg-length discrepancies, and atrophy of an
extremity. A variant affecting the forehead is called scleroderma en coup de sabre ; this
form may involve underlying skull and nervous tissue, as well as the skin. Finally, there
is a mixed type which is a combination of two or more of the previous subtypes.
Although localized forms of scleroderma are generally not associated with internal
organ involvement, one large pediatric cohort found nearly a quarter of patients to have
at least one extracutaneous manifestation. In addition, though rare, progression to
juvenile systemic sclerosis (JSSc) has been reported.
TABLE 101.4
CLASSIFICATION OF SYSTEMIC SCLEROSIS, LOCALIZED
SCLERODERMAS, AND SCLERODERMA-LIKE DISORDERS
Systemic sclerosis
Cutaneous scleroderma
Diffuse
Limited
Overlap syndromes
Sclerodermatomyositis or with other connective tissue diseases
Mixed connective tissue disease (MCTD)
Localized scleroderma
Circumscribed morphea
Generalized morphea
Pansclerotic morphea
Linear (include “en coup de sabre”) morphea
Mixed subtype
Graft-versus-host disease
Chemically induced scleroderma-like disease
Polyvinyl chloride
Toxic oil syndrome
Pentazocine
Bleomycin
Adjuvant disease
Pseudosclerodermas
Phenylketonuria
Syndromes of premature aging
Localized idiopathic fibroses
Scleredema
Diabetic cheiroarthropathy
Porphyria cutanea tarda
Reprinted from Zulian F, Cassidy JT. The systemic sclerodermas and related disorders. In: Cassidy JT, Petty RE,
Laxer RM, et al., eds. Textbook of Pediatric Rheumatology . 6th ed. Philadelphia, PA: Saunders Elsevier; 2011:414–
437. Copyright © 2011 Elsevier. With permission.
FIGURE 101.3 Hemiatrophy of left leg because of linear scleroderma. Note normal appearing size,
muscle mass, and overall bulk of normal right leg. (Courtesy of Shriners Hospitals for Children,
Houston, Texas.)
The far more serious form, JSSc, is also very rare, occurring in fewer than 1,000
children nationwide. JSSc is a chronic, multisystem, connective tissue disorder, where
hardening of the skin is combined with fibrous changes in the internal organs. JSSc
often presents with cutaneous changes such as RP (90% of patients), edema, induration,
increased pigmentation, and tightening of the skin. Some of these children may also
develop arthritis resembling JIA, muscle weakness resembling juvenile
dermatomyositis (JDM), and nodules along tendon sheaths. If these features are seen,
one should consider the possibility of an overlap syndrome, in which features of SLE,
JSSc, JDM, and JIA intermingle.
Serious illness and death can occur in JSSc. Severe, uncontrolled hypertension and
rapidly progressive renal failure (scleroderma renal crisis) have been major causes of
mortality, although the introduction of ACE inhibitors has dramatically improved shortterm survival. Primary myocardial disease with conduction disturbances, pericarditis,
and intractable CHF, as well as pulmonary hypertension caused by fibrosis, remains
significant sources of morbidity and mortality. Additional complications of JSSc
include (i) digital gangrene and nonhealing ulcers most frequently involving the
fingers, elbows, and malleoli secondary to vascular occlusion; (ii) disordered motility
of the distal esophagus with dysphagia and reflux esophagitis (60% of affected
children); (iii) malabsorption syndrome; (iv) thrombocytopenia with subsequent
cerebral hemorrhage; (v) interstitial lung disease; and (vi) cranial nerve involvement
with trigeminal sensory neuropathy, facial weakness, and tinnitus.
In 2007, a provisional classification system for scleroderma was established by the
Pediatric Rheumatology European Society (PRES), the American College of
Rheumatology (ACR), and the European League Against Rheumatism (EULAR).
Patients <16 years of age may be classified as having JSSc with the presence of one
major criterion and two minor criteria ( Table 101.5 ). The major criterion which is
required for every diagnosis is proximal sclerosis or induration of the skin. The minor
criteria include many clinical symptoms (e.g., sclerodactyly, RP, dysphagia,
arrhythmias), and several laboratory findings (e.g., positive ANA).
The presence of autoantibodies is supportive of the diagnosis. High titers of ANA
are reported in 80% to 97% of children with JSSc. While, antitopoisomerase I (antiScl-70) autoantibodies and anticentromere antibodies are occasionally positive, this is
seen less frequently in children than with adults. Routine blood tests (e.g., complete
blood cell count [CBC], serum chemistries, and urinalysis) are not helpful
diagnostically. In select cases, a skin biopsy may be required.
