Glossary of Unique Terms and Definition
Prepared by: Dominic C. Sia
Acrodermatitis enteropathica
Recessively inherited partial defect in intestinal zinc absorption. Features include hyperpigmented skin lesions on the acral surfaces of the upper and the lower extremities, as well as the face and buttocks. Usually associated with other clinical manifestations (eg, alopecia, night blindness, diarrhea, impaired taste, growth retardation, and immune dysfunction).
Black Box Warning
A type of warning that appears on the package insert for prescription drugs that may cause serious adverse effects. It is so named for the black border that usually surrounds the text of the warning. This means that medical studies indicate that the drug carries a significant risk of serious or even life-threatening adverse effects.
Bronchiolitis obliterans
Rare disease caused by epithelial injury to the lower respiratory tract that results in obstruction and obliteration of the distal airways.May occur after chemical, infectious (influenza, measles, adenovirus, and mycoplasma), or immunological injury, but can be idiopathic. Patients usually present with tachypnea, dyspnea, persistent cough, wheezing and hypoxemia that is unresponsive to bronchodilator therapy. Initially, the chest radiograph may appear normal or demonstrate hyperinflation or other nonspecific findings (diffuse interstitial infiltrates, atelectasis, and bronchiectasis). High-resolution chest CT (HRCT) has reveals a mosaic pattern of hypolucencies (due to air trapping) more pronounced on expiratory views.
Coats' disease
Coats’ disease, (also known as exudative retinitis or retinal telangiectasis, sometimes spelled Coates' disease), is a very rare congenital, nonhereditary eye disorder, causing full or partial blindness, characterized by abnormal development of blood vessels behind the retina.It can have a similar presentation to that of retinoblastoma.
Coats’ usually affects only one eye (unilateral) and occurs predominantly in young males, with the onset of symptoms generally appearing in the first decade of life. Peak age of onset is between 6-8 years of age, but onset can range from 5 months to 71 years.
Coats’ disease results in a gradual loss of vision. Blood leaks from the abnormal vessels into the back of the eye, leaving behind cholesterol deposits and damaging the retina. Coats’ normally progresses slowly. At advanced stages, retinal detachment is likely to occur. Glaucoma, atrophy, and cataracts can also develop secondary to Coats’ disease. In some cases, removal of the eye may be necessary (enucleation).
Cutis Marmorata
Cutis marmorata is characterized by symmetric, reticular mottling of the skin of the extremities and trunk (picture 5) [17]. It is caused by a vascular response to cold and usually resolves with warming. No treatment is required.Physiologic cutis marmorata must be distinguished from cutis marmorata telangiectatica congenita, a vascular malformation in which the lesions do not resolve with warming. Cutis marmorata telangiectatica congenita may be associated with extracutaneous findings. (See "Vascular lesions in the newborn", section on 'Cutis marmorata telangiectatica congenita'.)
Dactylitis
(sausage digits)
A very characteristic feature of Spondyloarthritis is dactylitis, also known sausage toe or sausage finger. Unlike synovitis, in which swelling is confined to the joints, with dactylitis the entire digit is swollen with surprisingly little pain or tenderness.
Denys-Drash Syndrome
Rare disorder consisting of the triad of congenital nephropathy, Wilms tumor, and intersex disorders resulting from mutations in the Wilms tumor suppressor (WT1) gene on chromosome band 11p13.
Dishidrotic Dermatitis
Pompholix or dyshidrosis is an intensely pruritic chronic recurrent dermatitis of unknown etiology that typically involves the palms and soles and lateral aspects of the fingers. The vesicles are from cytokine induced intercellular fluid accumulation and have nothing to do with abnormal sweating
Dysfunctional Elimination Syndrome (DES)
Anorectal and lower urinary tract function are interrelated. As a result, constipation is often associated with voiding dysfunction with a reported frequency that ranges from 30 to 88 percent of children with voiding dysfunction.
Erythema multiforme
Erythema multiforme (EM) is an acute eruption characterized by distinctive target lesions and diagnostic histology that is often caused by infections (typically Herpes virus or Mycoplasma) and has a benign clinical course. Lesions tend to affect the distal extremities, including the palms and soles. Patients with widely disseminated purpuric macules and blisters and prominent involvement of the trunk and face are likely to have SJS, which is usually drug-induced. There are reports of EM in association with medication use.
Gianotti-Crosti syndrome
(papular acrodermatitis)
Symmetric papular eruption with an acral distribution (cheeks, buttocks, and extensor surfaces of the forearms and legs). Occurs in association with a viral illness. HBV and EBV are the most common causes. URI or GI illness 1 week before the rash. Prolonged course (10 days – 6 months) but excellent prognosis. Tx is supportive
Granulomatosis Infantiseptica.
A characteristic severe in utero Listerial infection in pregnant women. May result from transplacental transmission. Infants with this disorder have disseminated abscesses and/or granulomas in multiple internal organs (liver, spleen, lungs, kidneys, brain). Skin lesions, papular or ulcerative, may develop. Most neonates with granulomatosis infantiseptica are stillborn or die soon after birth.
Hair Torniquet
clinical entity caused by a hair or thread becoming tightly wrapped around an appendage. This leads to constriction of the digit, impedance of lymphatic and venous drainage, swelling, edema, and eventual ischemia. With progressive swelling, the constricting agent may become embedded in the soft tissue or cut through the skin.
Harlequin color change
Harlequin color change is observed when an infant is lying on his or her side. It is characterized by intense reddening of the dependent side and blanching of the non-dependent side, with a demarcation line along the midline. The duration ranges from a few seconds to 20 minutes.
The Hering-Breuer Inflation Reflex
Reflex that causes a transient apnea. The stimulus for this reflex is pulmonary inflation. The afferent pathway consists of large myelinated fibers in the vagus that enter the brainstem and project to the DRGs, the apneustic center, and the pontine respiratory groups. The efferent limb of the reflex consists of bronchodilation in addition to the apnea or slowing of the ventilatory frequency. Tidal volumes of 800 to 1500 mL are generally required to elicit this reflex in conscious eupneic adults. Infants have Hering-Breuer inflation reflex thresholds within their normal tidal volume ranges, and the reflex may be an important influence on their tidal volumes and respiratory rates.
Paradoxical Reflex of Head
When the vagus nerves were recovering from cold block, inflation of the lungs no longer inhibited inspiration (abolished the Breuer-Hering inflation reflex) but strongly augmented it .
ID Reaction
An itchy rash with blisters, or vesicles. It usually occurs on the sides of the fingers, but it can also be found on the chest or arms. This rash occurs in response to a fungal infection somewhere else on the body, especially athlete's foot. The id reaction is thought to be an allergic response to fungi. Treating the fungal infection makes the id reaction rash go away.
Job Syndrome
Also known as Hyperimmunoglobulin E syndrome (HIES). This is an autosomal dominant disease cause by mutations of signal transducer and activator of transcription 3 (STAT3) gene. It is characterized by eczematous dermatitis, recurrent staphylococcal boils, hyperextensible joints, and distinctive coarse facies.
Kartagener Syndrome
Combination of situs inversus (reversal of the internal organs), chronic sinusitis, bronchiectasis (due to Primary Ciliary Dyskenesia)
Lemierre syndrome (jugular vein suppurative thrombophlebitis with Fusobacterium spp.), in which the vessels of the carotid sheath become infected leading to bacteremia and metastatic spread of infection to the lungs and mediastinum.
Orthostatic Proteinuria
Occurs in 2 to 5 percent of adolescents and accounts for 60-75% of cases of proteinuria that present in childhood or adolescence. Characterized by an increase in protein excretion in the upright position, but normal protein excretion (<50 mg per eight hours) when supine. (See 'Introduction' above.). A normal Pr/Cr ratio on the first morning void and dipstick-positive proteinuria on a second upright specimen with an elevated Pr/Cr ratio indicate orthostatic proteinuria. The long-term prognosis is benign and the proteinuria resolves spontaneously in most patients.
PHACES Syndrome
P Posterior fossa brain malformations, (i.e. Dandy-Walker variant)
H Hemangiomas, particularly large, segmental facial lesions
A Arterial anomalies
C Cardiac anomalies and coarctation of the aorta
E Eye abnormalities and endocrine abnormalities
S Sternal cleft, supraumbilical raphe, or both
Purpura Fulminans
Purpura fulminans is a severe complication of meningococcal disease occurring in approximately 15 to 25 percent of those with meningococcemia. It is characterized by the acute onset of cutaneous hemorrhage and necrosis due to vascular thrombosis and disseminated intravascular coagulopathy. Initially, there is cutaneous pain followed by erythema and petechiae. Ecchymoses develop and these lesions, if the course is not altered with therapy, evolve into painful indurated, well-demarcated purple papules with erythematous borders. These areas progress to necrosis with formation of bullae and vesicles. Gangrenous necrosis can follow with extension into the subcutaneous tissue and occasionally involves muscle and bone. Early and aggressive intervention with antimicrobials and support of vascular perfusion are keys to prevention of this complication. Studies with activated protein C concentrate have shown promising results in reversing purpura fulminans once the process has begun. The drug is safe and has been shown to lead to dose related increases of plasma activated protein C and resolution of coagulation imbalances. At times, surgical debridement of lesions and skin grafting may be necessary. Deep necrosis of limbs or digits may call for amputation.
Sandifer syndrome
Sandifer syndrome (or Sandifer's syndrome) is a rare paediatric medical disorder, characterised by gastrointestinal symptoms and associated neurological features. There is a significant correlation between the syndrome and gastroesophageal reflux disease (GERD), however it is estimated to occur in less than 1% of children with reflux.
Onset is usually confined to infancy and early childhood[2], with peak prevalence at 18-36 months[4]. In rare cases, particularly where the child is severely mentally impaired, onset may extend to adolescence.
The classical symptoms of the syndrome are spasmodic torticollis and dystonia. Nodding and rotation of the head, neck extension, gurgling, writhing movements of the limbs, and severe hypotonia have also been noted.
Spasms may last for 1-3 minutes and may occur up to 10 times a day. Ingestion of food is often associated with occurrence of symptoms; this may result in reluctance to feed. Associated symptoms, such as epigastric discomfort, vomiting (which may involve blood) and abnormal eye movements have been reported. Clinical signs may also include anaemia.
Shagreen Patch
A shagreen patch is a firm yellowish-red or pink area of nodules slightly elevated above the surrounding skin and often described as having the texture of an orange peel. They vary in size from a few millimeters to more than 10 cm in diameter. In individuals with Tuberous Sclerosis, they are nearly always found on or around the lumbar region of the back, but can appear on other parts of the body as well.
Sympathetic Ophthalmopathy
Is the phenomenon where months to years after one(1) eye suffers an insult, the other eye becomes affected as well. Can occur post-infection, post-trauma, and post-treatment for malignancy of the eye.