Justine H. S. Fong, MD

A 7-year-old boy was brought for evaluation of a rash on the chin that had appeared 2 weeks earlier. It was slightly itchy. The mother had applied a topical corticosteroid for a few days but then stopped because of worsening of the lesion.

The erythematous, scaly lesion with a well-defined border on this boy's face is characteristic of tinea faciei. As the lesion spreads peripherally, the center often clears and produces the classic annular lesion that is responsible for the designation of ringworm. Microscopic examination of a potassium hydroxide preparation of scrapings from the lesion showed numerous septate hyphae. This confirmed a dermatophyte infection; culture can also establish the diagnosis. Scrapings from scales at the edge of the lesion produce the best results.

Trichophyton rubrum, Trichophyton mentagrophytes, Trichophyton tonsurans

 are the most prevalent causative organisms.

 Occasionally, tinea faciei may simulate polymorphous light eruption, seborrheic dermatitis, contact dermatitis, impetigo, discoid lupus erythematosus, and acne rosacea.

Tinea faciei usually responds to application of a topical antifungal agent, such as micronazole, ketoconazole, econazole, naftifine, or terbinafine. In difficult-to-treat cases, oral itraconazole or fluconazole can be considered. This child was treated with topical terbinafine. The lesion resolved within 10 days.

 Criado PR, Costa AR, Vasconcellos C, et al. Tinea faciei in an infant caused by 

 Gorani A, Oriani A, Cambiaghi S. Seborrheic dermatitis-like tinea faciei. 

Articles

Tinea Faciei

The parents of this 5-month-old boy were concerned that his eyes were turned in toward the nose. The infant was otherwise healthy. Physical examination findings were normal. In particular, when a light source was projected onto the eyes, the light reflex was centered in both eyes.

The child has pseudostrabismus (pseudoesotropia)- the false appearance of strabismus when, in fact, the eyes are orthotropic. The appearance may result from a flat and broad nasal bridge, prominent epicanthal folds, or a narrow interpupillary distance. The condition is more common in Asian children. With pseudostrabismus, the corneal light reflex is centered in both eyes and the alternate cover test shows no refixation movement. The converse is true for strabismus. The prognosis is excellent; most children with pseudostrabismus outgrow the condition.

Pseudostrabismus (Pseudoesotropia)

Ten-year-old girl assessed because of limitation of neck motion. Born at term to non-consanguineous parents. No history of necktrauma. Family history andpast health unremarkable.

Weight, 28 kg (25th percentile); height, 125 cm (3rd percentile). Short neck, low posterior hairline, and limited range of neck motion. Remainder of examination unremarkable. No Sprengel deformity or scoliosis noted. No heart murmur; normal hearing.

The clinical triad of low posterior hairline, short neck, and limited range of neck motion in a patient with fused multiple cervical vertebrae isdiagnostic of Klippel-Feil syndrome. Maurice Klippel and Andre Feil originally described the syndrome in 1912.

 These authors described a 46-year-old tailor who had an unusually short neck with marked restriction of neck movement. The patient had 4 fused cervical vertebrae.

 Both autosomal recessive inheritance and autosomal dominant inheritance with variable expression have been described.

Klippel-Feil syndrome results from abnormal embryonic formation of the vertebral mesenchymal anlages and failure of the mesodermal somites to divide during the third to eighth week of gestation.

 The anomaly is most likely caused by disturbed expression or mutation in the

gene, which regulates segmentation and resegmentation of the spine.

 The gene has been mapped to chromosome 20p11.2.

The incidence is estimated at 1:43,000 live births.

 The female-to-male ratio isapproximately 1.3:1.

The clinical manifestations of Klippel-Feil syndrome are a short neck, a low posterior hairline, and limitation of head and neck movements. Rotational loss is usually more pronounced than the loss of flexion and extension. The head seems to sit in the thorax. Torticollis or a webbed neck may be present.

 Affected patients might have syskinesia, in which movements in one hand are mirrored in the other.

 The condition is characterized by fusion of 2 or more cervical vertebrae.

Three subtypes of Klippel-Feil syndrome are recognized

• Type 1 presents with massive fusion of the cervical vertebrae and sometimes the upper thoracic vertebrae.

• Type 2 involves fusion at only 1 or 2 cervical intervertebral spaces.

• Type 3 occurs when lower thoracic or lumbar spine anomalies are associated with type 1 or type 2 Klippel-Feil syndrome.

Fusion of the cervical vertebrae might result in hypermobility and instability of the cervical spine at unfused levels, spinal cord compression from disk protrusion, and osteoarthritic changes at a later age.

 Traumatic tetraplegia has been reported following minor trauma.

Klippel-Feil syndrome is associated with a spectrum of anomalies. Scoliosis occurs in approximately 60% of affected patients; hearing loss in over 50%; genitourinary anomalies in 25% to 35%; rib abnormalities in 33%; Sprengel deformity in 20% to 30%; congenital heart disease in 14% to 29%; and cleft palate in 15%.

Lateral flexion-extension radiographs of the cervical spine confirm the diagnosis and establish the range of motion of each open interspace.

 A lateral radiograph of the skull will demonstrate occipitocervical abnormalities.

 MRI of the cervical cord and craniocervical junction is indicated before any orthopedic procedure and whenever neurologic symptoms or signs are present in the upper extremities.

Audiology testing is indicated for all affected patients. Kidney and bladder ultrasonography should be performed to screen for urinary anomalies. Echocardiography is indicated when congenital heart disease is suspected.

Treatment is mainly symptomatic. Affected patients should avoid contact sports and any exercise that might exacerbate instability of the cervical spine.

   Klippel M, Feil A. Un cas d'absence des vertÃ©bres cervicales, avec cage thoracique remontant jusqu Ã  la base du crÃ¢ne. 

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   Thompson E, Haan E, Sheffield L. Autosomal dominant Klippel-Feil anomaly with cleft palate. Clin Dysmorphol. 1998;7:11-15.
 

   Aksoy FG, Aksoy OG, Gomori JM. Klippel-Feil syndrome in association with posterior fossa suboccipital dermoid cyst. Eur Radiol. 2001;11:142-144.
 

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   Hinojosa M, Tatagiba M, Harada K, Samii M. Dermoid cyst in the posterior fossa accompanied by Klippel-Feil syndrome. Childs Nerv Syst. 2001;17:97-100.
 

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Klippel-Feil Syndrome in a 10-Year-Old Girl

A 7-year-old boy presented with an asymptomatic cystic lesion on the lateral aspect of the left ankle of 4 months' duration. There was no history of trauma. The mass fluctuated in size: it was smaller when the child was recumbent and larger when the child was upright.

Musculoskeletal examination of the spine, upper extremities, and lower extremities was entirely unremarkable, except for a tensely cystic mass over the lateral aspect of the left ankle just inferior to the lateral malleolus. The mass measured 3 3 1.5 cm. It nicely transilluminated when an otoscope was placed over its top. The mass did not change in size when the peroneal tendons were stressed or when the foot moved through a full range of motion. A sonogram of the left ankle confirmed the presence of a lobulated elongated cyst of 3 3 1.5 cm.

Alexander K. C. Leung, MD, and Justine H. S. Fong, MD, of Calgary, Alberta, diagnosed a peroneal ganglion. This benign, fluid-filled cyst results from either herniation of the synovium through a defect in a joint or myxomatous degeneration of the connective tissue close to a joint or tendon. The lesion is typically connected to the underlying joint capsule or tendon sheath by a stalk that may be tortuous. Transillumination with an otoscope is an easy way to establish the diagnosis. Ultrasonography can help to better define the mass. The lesion is usually asymptomatic but may become tender as it expands or when it is impacted. Sites of predilection include the dorsum of the wrist, dorsum of the foot, and the ankle.

In children, ganglia are usually benign and tend to disappear over time. Operative excision is recommended if the lesion is painful, unsightly, interferes with normal tendon function, or rapidly increases in size. Because none of the indications existed in this patient, therapy was conservative.

Justine H. S. Fong, MD

Articles

Tinea Faciei

Pseudostrabismus (Pseudoesotropia)

Klippel-Feil Syndrome in a 10-Year-Old Girl

Photoclinic: Peroneal Ganglion