Hutchinson's triad

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Hutchinson's teeth resulting from congenital syphilis Hutchinson teeth congenital syphilis PHIL 2385.rsh.jpg
Hutchinson's teeth resulting from congenital syphilis

Hutchinson triad is a triad of signs that may be seen in late congenital syphilis, including: interstitial keratitis, malformed teeth (Hutchinson incisors and mulberry molars), and eighth nerve deafness. [1] [2]

Contents

Late congenital syphilis typically manifests after 2 years of age. [3] It is a rare condition due to the high mortality rate of mother-to-child transmission (MTCT) of syphilis. Nearly 40% of MTCT of syphilis result in pregnancy loss or neonatal fatality. Additionally, only 15% of liveborn infants are symptomatic. [4]

The triad is named after British surgeon Sir Jonathan Hutchinson. [5] He noted that defects in teeth were a consistent feature in congenital syphilis. [5]

If congenital syphilis is not diagnosed and treated quickly, it may result in significant, permanent physical harm. These potential morbidities include Hutchinson’s triad, thickening of the clavicle, juvenile paresis, juvenile tabes dorsalis, aortitis, and asymptomatic neurosyphilis. [3] Thus highlighting the importance of early screening in pregnant people and neonates, with prompt treatment.

Pathophysiology

Congenital syphilis results from the transmission of Treponema pallidum (a spirochete bacteria) from an infected mother to the fetus. Transmission can occur in utero via the placenta or during delivery. [6] If congenital syphilis goes unidentified at birth, most of the clinical signs and symptoms will develop years later.

Malformed dentition (Hutchinson incisors and mulberry molars) are the result of a disruption to enamel formation. During development, Treponema pallidum invades proximate to the dental germ layers. The inflammatory reaction cause by the bacteria results in the inhibition of ameloblasts–the cells that produce enamel. [7]

Interstitial keratitis is immune-mediated inflammation of the cornea, without an active corneal infection by Treponema pallidum bacteria. Essentially, the patient’s immune cells over-activate, inducing a strong inflammatory reaction that damages the cornea. [8]

Finally, cranial nerve eight deafness is the result of the syphilis infection spreading to the inner ear. The infection triggers several pathologic changes in the ear:

  1. Periostitis (an inflammation of the fascia that surrounds the bone) of the ossicles and temporal bone
  2. Atrophy of the organ of Corti–the inner-ear structure located in the cochlea that contains hair cells and contributes to audition
  3. Creates an excess of endolymph fluid in the membranous labyrinth

These changes damage the spiral ganglion and cranial nerve 8 fibers, leading to progressive sensorineural hearing loss. [9]

Epidemiology

Despite treatment being widely accessible, the incidence of congenital syphilis is on the rise globally. From 2016-2023, 700,000 to 1.5 million cases of congenital syphilis were reported annually. [6] Syphilis is endemic in most middle and low-income countries. However, in recent years, there are an increasing number of cases in higher-income countries as well. Nevertheless, it is difficult to accurately assess the global incidence for several reasons: variations in antenatal screening practices, availability of syphilis testing/testing facilities, appropriate follow up with healthcare providers, and ability to accurately collect surveillance data. [4]

In the United States, the Centers for Disease Control and Prevention recommends syphilis screening at the first prenatal visit, and again early in the third trimester for individuals at high risk of infection. [10] These recommendations differ in various countries based on the prevalence of syphilis. [11] Additionally, areas without testing facilities will not report cases due to a lack of resources rather than an absence of the disease. These confounding variables lead to an underestimation of the true incidence of congenital syphilis.

Presentation

Interstitial keratitis is usually seen between five and twenty years of age. [7] It generally presents in both eyes, and the patient experiences concurrent photophobia, pain, corneal opacity, and excessive tearing. The corneal inflammation leads to blood vessel proliferation. Once the inflammation goes down, the blood vessels and opacities regress, inducing corneal scarring. The impact on vision depends on the severity of the scarring, [12] but may vary from blurring to blindness. [7]

Damage to the teeth occurs in the first weeks after birth, but as deciduous teeth are largely unaffected, the effects are not seen until the first permanent teeth erupt around six years old. [7] Hutchinson incisors are peg-shaped, notched, widely-spaced upper central incisors. Mulberry molars are first molars, and have many small cusps, rather than the standard four. Both the incisors and molars demonstrate enamel thinning and discoloration. [13]

Eighth nerve deafness typically starts with high-frequency hearing loss between eight and ten years old, but can start at a younger age. [7] It may have sudden onset in one or both ears, and can progress rapidly. It can induce permanent hearing loss. [14] There may also be a deformity on the nose known as saddle nose deformity. [15]

Treatment

Syphilis infections are treated with the administration of penicillin, a widely available antibiotic. [16] However, if diagnosis of congenital syphilis is delayed until Hutchinson’s triad is noted–among other signs and symptoms, such as nasal cartilage destruction (saddle nose), frontal bossing, joint swelling (Clutton joints), tibial thickening (Saber shins), hard palate defect–the damage is irreversible. [4] In some cases, interstitial keratitis may respond to corticosteroids. [7]

Overall, prevention of congenital syphilis with prenatal screening for maternal syphilis is the best treatment. Effective prevention requires routine prenatal screening, rapid treatment of all infected mothers, and partner tracing/treatment. Additionally, improved health education on STIs and safe sexual practices is essential. All infants with positive syphilis screenings should be treated immediately for improved long-term health outcomes, and should follow up regularly with their doctor for continued observation. [6]

Related Research Articles

<span class="mw-page-title-main">Syphilis</span> Sexually transmitted infection

Syphilis is a sexually transmitted infection caused by the bacterium Treponema pallidum subspecies pallidum. The signs and symptoms depend on the stage it presents: primary, secondary, latent or tertiary. The primary stage classically presents with a single chancre, though there may be multiple sores. In secondary syphilis, a diffuse rash occurs, which frequently involves the palms of the hands and soles of the feet. There may also be sores in the mouth or vagina. Latent syphilis has no symptoms and can last years. In tertiary syphilis, there are gummas, neurological problems, or heart symptoms. Syphilis has been known as "the great imitator", because it may cause symptoms similar to many other diseases.

<i>Treponema pallidum</i> Species of bacterium

Treponema pallidum, formerly known as Spirochaeta pallida, is a microaerophilic, gram-negative, spirochaete bacterium with subspecies that cause the diseases syphilis, bejel, and yaws. It is known to be transmitted only among humans and baboons. T. pallidum can enter the host through mucosal membranes or open lesions in the skin and is primarily spread through sexual contact. It is a helically coiled microorganism usually 6–15 μm long and 0.1–0.2 μm wide. T. pallidum's lack of both a tricarboxylic acid cycle and processes for oxidative phosphorylation results in minimal metabolic activity. As a chemoorganoheterotroph, Treponema pallidum is an obligate parasite that acquires its glucose carbon source from its host. Glucose can be used not only as a primary carbon source but also in glycolytic mechanisms to generate ATP needed to power the bacterium given its minimal genome. The treponemes have cytoplasmic and outer membranes. Using light microscopy, treponemes are visible only by using dark-field illumination. T. pallidum consists of three subspecies, T. p. pallidum, T. p. endemicum, and T. p. pertenue, each of which has a distinct related disorder. The ability of T. pallidum to avoid host immune defenses has allowed for stealth pathogenicity. The unique outer membrane structure and minimal expression of surface proteins of T. pallidum has made vaccine development difficult. Treponema pallidum can be treated with high efficacy by antibiotics that inhibit bacterial cell wall synthesis such as the beta-lactam antimicrobial penicillin-G.

<span class="mw-page-title-main">Yaws</span> Medical condition

Yaws is a tropical infection of the skin, bones, and joints caused by the spirochete bacterium Treponema pallidum pertenue. The disease begins with a round, hard swelling of the skin, 2 to 5 cm in diameter. The center may break open and form an ulcer. This initial skin lesion typically heals after 3–6 months. After weeks to years, joints and bones may become painful, fatigue may develop, and new skin lesions may appear. The skin of the palms of the hands and the soles of the feet may become thick and break open. The bones may become misshapen. After 5 years or more, large areas of skin may die, leaving scars.

<span class="mw-page-title-main">Keratitis</span> Inflammation of the cornea of the eye

Keratitis is a condition in which the eye's cornea, the clear dome on the front surface of the eye, becomes inflamed. The condition is often marked by moderate to intense pain and usually involves any of the following symptoms: pain, impaired eyesight, photophobia, red eye and a 'gritty' sensation. Diagnosis of infectious keratitis is usually made clinically based on the signs and symptoms as well as eye examination, but corneal scrapings may be obtained and evaluated using microbiological culture or other testing to identify the causative pathogen.

<span class="mw-page-title-main">Congenital syphilis</span> Presence of syphilis in a baby due to its mother being infected

Congenital syphilis is syphilis that occurs when a mother with untreated syphilis passes the infection to her baby during pregnancy or at birth. It may present in the fetus, infant, or later. Clinical features vary and differ between early onset, that is presentation before 2-years of age, and late onset, presentation after age 2-years. Infection in the unborn baby may present as poor growth, non-immune hydrops leading to premature birth or loss of the baby, or no signs. Affected newborns mostly initially have no clinical signs. They may be small and irritable. Characteristic features include a rash, fever, large liver and spleen, a runny and congested nose, and inflammation around bone or cartilage. There may be jaundice, large glands, pneumonia, meningitis, warty bumps on genitals, deafness or blindness. Untreated babies that survive the early phase may develop skeletal deformities including deformity of the nose, lower legs, forehead, collar bone, jaw, and cheek bone. There may be a perforated or high arched palate, and recurrent joint disease. Other late signs include linear perioral tears, intellectual disability, hydrocephalus, and juvenile general paresis. Seizures and cranial nerve palsies may first occur in both early and late phases. Eighth nerve palsy, interstitial keratitis and small notched teeth may appear individually or together; known as Hutchinson's triad.

<span class="mw-page-title-main">Red eye (medicine)</span> Eye that appears red due to illness or injury

A red eye is an eye that appears red due to illness or injury. It is usually injection and prominence of the superficial blood vessels of the conjunctiva, which may be caused by disorders of these or adjacent structures. Conjunctivitis and subconjunctival hemorrhage are two of the less serious but more common causes.

<span class="mw-page-title-main">Jonathan Hutchinson</span> English physician and pathologist (1828–1913)

Sir Jonathan Hutchinson, was an English surgeon, ophthalmologist, dermatologist, venereologist, and pathologist, who notably advocated for circumcision.

<span class="mw-page-title-main">Nonvenereal endemic syphilis</span> Medical condition

Bejel, or endemic syphilis, is a chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum. Bejel is one of the "endemic treponematoses", a group that also includes yaws and pinta. Typically, endemic trepanematoses begin with localized lesions on the skin or mucous membranes. Pinta is limited to affecting the skin, whereas bejel and yaws are considered to be invasive because they can also cause disease in bone and other internal tissues.

<span class="mw-page-title-main">Neurosyphilis</span> Infection of the central nervous system in a patient with syphilis

Neurosyphilis is the infection of the central nervous system in a patient with syphilis. In the era of modern antibiotics, the majority of neurosyphilis cases have been reported in HIV-infected patients. Meningitis is the most common neurological presentation in early syphilis. Tertiary syphilis symptoms are exclusively neurosyphilis, though neurosyphilis may occur at any stage of infection.

<span class="mw-page-title-main">Corneal neovascularization</span> Medical condition

Corneal neovascularization (CNV) is the in-growth of new blood vessels from the pericorneal plexus into avascular corneal tissue as a result of oxygen deprivation. Maintaining avascularity of the corneal stroma is an important aspect of healthy corneal physiology as it is required for corneal transparency and optimal vision. A decrease in corneal transparency causes visual acuity deterioration. Corneal tissue is avascular in nature and the presence of vascularization, which can be deep or superficial, is always pathologically related.

Interstitial keratitis (IK) is an eye disorder characterized by scarring of the cornea due to chronic inflammation of the corneal stroma (keratitis). "Interstitial" refers to space between cells.

<span class="mw-page-title-main">Blueberry muffin baby</span> Purplish skin bumps on a newborn due to overproduction of blood

Blueberry muffin baby, also known as extramedullary hematopoiesis, describes a newborn baby with multiple purpura, associated with several non-cancerous and cancerous conditions in which extra blood is produced in the skin. The bumps range from 1-7 mm, do not blanch and have a tendency to occur on the head, neck and trunk. They often fade by three to six weeks after birth, leaving brownish marks. When due to a cancer, the bumps tend to be fewer, firmer and larger.

<span class="mw-page-title-main">Enamel hypoplasia</span> Lack of tooth enamel

Enamel hypoplasia is a defect of the teeth in which the enamel is deficient in quantity, caused by defective enamel matrix formation during enamel development, as a result of inherited and acquired systemic condition(s). It can be identified as missing tooth structure and may manifest as pits or grooves in the crown of the affected teeth, and in extreme cases, some portions of the crown of the tooth may have no enamel, exposing the dentin. It may be generalized across the dentition or localized to a few teeth. Defects are categorized by shape or location. Common categories are pit-form, plane-form, linear-form, and localised enamel hypoplasia. Hypoplastic lesions are found in areas of the teeth where the enamel was being actively formed during a systemic or local disturbance. Since the formation of enamel extends over a long period of time, defects may be confined to one well-defined area of the affected teeth. Knowledge of chronological development of deciduous and permanent teeth makes it possible to determine the approximate time at which the developmental disturbance occurred. Enamel hypoplasia varies substantially among populations and can be used to infer health and behavioural impacts from the past. Defects have also been found in a variety of non-human animals.

<span class="mw-page-title-main">History of syphilis</span>

The first recorded outbreak of syphilis in Europe occurred in 1494/1495 in Naples, Italy, during a French invasion. Because it was spread geographically by French troops returning from that campaign, the disease was known as "French disease", and it was not until 1530 that the term "syphilis" was first applied by the Italian physician and poet Girolamo Fracastoro. The causative organism, Treponema pallidum, was first identified by Fritz Schaudinn and Erich Hoffmann in 1905 at the Charité Clinic in Berlin. The first effective treatment, Salvarsan, was developed in 1910 by Sahachiro Hata in the laboratory of Paul Ehrlich. It was followed by the introduction of penicillin in 1943.

<span class="mw-page-title-main">Herpes simplex keratitis</span> Medical condition

Herpetic simplex keratitis is a form of keratitis caused by recurrent herpes simplex virus (HSV) infection in the cornea.

<span class="mw-page-title-main">Impacted wisdom teeth</span> Teeth that do not fully grow out of the gums due to being blocked by other teeth

Impacted wisdom teeth is a condition where the third molars are prevented from erupting into the mouth. This can be caused by a physical barrier, such as other teeth, or when the tooth is angled away from a vertical position. Completely unerupted wisdom teeth usually result in no symptoms, although they can sometimes develop cysts or neoplasms. Partially erupted wisdom teeth or wisdom teeth that are not erupted but are exposed to oral bacteria through deep periodontal pocket, can develop cavities or pericoronitis. Removal of impacted wisdom teeth is advised for the future prevention of or in the current presence of certain pathologies, such as caries, periodontal disease or cysts. Prophylactic (preventative) extraction of wisdom teeth is preferred to be done at a younger age to take advantage of incomplete root development, which is associated with an easier surgical procedure and less probability of complications.

<span class="mw-page-title-main">Meningeal syphilis</span> Medical condition

Meningeal syphilis is a chronic form of syphilis infection that affects the central nervous system. Treponema pallidum, a spirochate bacterium, is the main cause of syphilis, which spreads drastically throughout the body and can infect all its systems if not treated appropriately. Treponema pallidum is the main cause of the onset of meningeal syphilis and other treponemal diseases, and it consists of a cytoplasmic and outer membrane that can cause a diverse array of diseases in the central nervous system and brain.

<span class="mw-page-title-main">Herpes zoster ophthalmicus</span> Shingles in the human eye

Herpes zoster ophthalmicus (HZO), also known as ophthalmic zoster, is shingles involving the eye or the surrounding area. Common signs include a rash of the forehead with swelling of the eyelid. There may also be eye pain and redness, inflammation of the conjunctiva, cornea or uvea, and sensitivity to light. Fever and tingling of the skin and allodynia near the eye may precede the rash. Complications may include visual impairment, increased pressure within the eye, chronic pain, and stroke.

Exposure keratopathy is medical condition affecting the cornea of eyes. It can lead to corneal ulceration and permanent loss of vision due to corneal opacity.

Sheila Lukehart is an American physician who is Emeritus Professor of Medicine at the University of Washington. Her research covered immune responses and the pathogenesis of syphilis. In 2023, she was elected a Fellow of the American Society for Microbiology.

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