Michelin tire baby syndrome: a review of the literature and a proposal for diagnostic criteria with adoption of the name circumferential skin folds syndrome.

The term Michelin tire baby (MTB), named for the cartoon mascot of the Michelin Tire Company, has been used to describe babies with multiple symmetric circumferential rings of folded skin. In those reported with this phenotype who had skin biopsies, pathology has shown nevus lipomatosis, smooth muscle hamartoma, degenerative collagen, and scarring. Others did not undergo biopsy or had normal skin. Many individuals with the MTB phenotype have had a variety of other congenital anomalies. I review the literature on MTB and the history of the designation Michelin tire baby Syndrome (MTBS). Because the term MTBS has been poorly defined or not defined at all, I propose strict criteria for diagnosis. In doing so, it is recommended that the syndrome be renamed to avoid further confusion.

Generalized smooth muscle hamartoma with multiple congenital anomalies without the "Michelin tire baby" phenotype.

We report a patient with generalized smooth muscle hamartoma who presented with many of the variety of congenital anomalies that have been reported in babies with multiple symmetric circumferential rings of folded skin known as Michelin tire baby (MTB) syndrome, but our patient did not show the MTB phenotype. This constellation of findings in the absence of the MTB phenotype has not been previously reported.

Aplasia cutis congenita of the arm with associated radial dysplasia: case report, review of the literature, and proposed classification.

Aplasia cutis congenita (ACC), congenital absence of skin, is most common on the scalp but may rarely occur on the trunk and limbs. It is a physical finding that can occur in isolation or as part of a heterogeneous group of syndromes. It can affect localized to widespread areas of absent or atrophic, scarred skin at birth. We report a case of ACC of the distal right forearm associated with radial dysplasia in a newborn boy. According to the Frieden classification of ACC, this case, along with other similar reported cases, highlights the need to adjust the classification scheme commonly used for ACC so that it reflects the associated limb abnormalities with ACC of the extremities. Only five cases describing the association of radial dysplasia with ACC of the arm were found in the literature. Greater awareness of this association may allow for early intervention and better outcomes in children with ACC of the extremities.

Eosinophilic cellulitis (Wells syndrome) in a pediatric patient: a case report and review of the literature.

We report a 4-year-old boy who presented with multiple pruritic, annular, erythematous plaques on the lower extremities of 1 week's duration. Histopathology of an affected area revealed a dense dermal infiltrate of eosinophils and flame figures without evidence of vasculitis. A diagnosis of eosinophilic cellulitis (EC), or Wells syndrome, was made. The patient had an excellent response to topical and systemic steroids following 1 week of treatment. This case appeared to be idiopathic, as there was no cause identified such as arthropod bites or tinea infection. The patient's EC cleared and has not had a recurrence.

Branchio-oculo-facial syndrome presenting with concomitant thyroglossal duct cyst.

Branchial cleft anomalies are rare developmental defects of the neck, with an estimated 2% to 3% being bilateral. Although most are isolated findings, some are associated with syndromes. We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated in branchio-oculo-facial (BOF) syndrome. Magnetic resonance imaging (MRI) revealed a thyroglossal duct cyst at the base of the tongue. To our knowledge, this is the first reported case of BOF syndrome presenting concomitantly with a thyroglossal duct cyst.

A congenital case of circumscribed acral hypokeratosis.

Circumscribed acral hypokeratosis is a disorder characterized by areas of erythematous depressed skin with distinct histopathological findings typically found on the palmar and plantar surfaces. Most patients are middle-aged women who report a multiyear history. We present an 10-year-old African American boy who had an asymptomatic, irregularly shaped erythematous lesion on his left medial foot that had been present since birth. A biopsy showed an abrupt, well-demarcated decrease in the thickness of the stratum corneum layer, with no parakeratosis, that was consistent with a diagnosis of circumscribed hypokeratosis. This represents the first pediatric and congenital case of circumscribed hypokeratosis reported. We review the literature and discuss the ramifications of a congenital case on understanding the etiology of circumscribed hypokeratosis.

Vesiculopustular eruption associated with transient myeloproliferative disorder.

Transient myeloproliferative disorder (TMD) is a hematologic abnormality usually associated with Down syndrome that may present with a skin eruption in addition to typical systemic findings. We report a case of a patient with TMD and a vesiculopustular eruption without the phenotypic characteristics of Down syndrome who was found to have mosaic trisomy 21. Mutations of the globin transcription factor 1 gene, GATA1, are associated with both TMD and acute megakaryocytic leukemia. Transient myeloproliferative disorder typically presents with pancytopenia, hepatosplenomegaly, and immature circulating white blood cells, and affects approximately 10% of neonates with Down syndrome. These abnormalities rapidly regress within the first few months of life. However, 20% to 30% of neonates with Down syndrome and TMD later develop leukemia. The tumor antigen PRAME (preferentially expressed antigen in melanoma) may serve as a marker for leukemic transformation. We report an illustrative case to alert clinicians about this uncommon cause of vesiculopustular eruption in a neonate without the phenotypic characteristics of Down syndrome and review the clinical findings and laboratory studies that aid in accurate diagnosis.

Trichomegaly in a 3-year-old girl with alopecia areata.

We report here a case of bilateral trichomegaly associated with alopecia areata in a 3-year-old girl, healthy except for mild atopic dermatitis. Trichomegaly is a rare condition and, in many cases, is a side effect of medication such as ophthalmic solution prostaglandin analogs and epidermal growth factor receptor inhibitors. Trichomegaly has also been associated with acquired medical conditions such as HIV, systemic lupus erythematosus, anorexia nervosa, porphyria cutanea tarda, hypothyroidism, and dermatomyositis. In very rare circumstances, trichomegaly has been described as part of congenital conditions such as Oliver-McFarlane syndrome. We believe that the development of bilateral trichomegaly in conjunction with alopecia areata in this patient represents a novel finding as it occurred in the absence of any significant health problems, congenital abnormalities, or medications.