Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia

Clinical Features

Wolach et al. (1990) described this combination in a 5-year-old daughter of first-cousin, Sephardic Jewish parents. Diffuse skin pigmentation had been present from birth and biopsy confirmed the diagnosis of diffuse cutaneous mastocytosis (see 154800). There was no mental retardation associated with the microcephaly. Wolach et al. (1990) favored autosomal recessive inheritance.

Hennekam and Beemer (1992) studied a girl, born of nonconsanguineous parents in the Netherlands, who at birth was noted to have diffuse hyperpigmented, slightly elevated macules on her whole body, especially on the trunk and extremities, with exaggerated dermatographism. She had a large anterior fontanel, slight proptosis, upward slanting palpebral fissures, highly arched palate, receding chin, and clinodactyly of the fifth fingers. Neurologic examination revealed generalized hypotonia, decreased deep tendon reflexes, and absent swallowing reflex; she required lifelong feeding by gavage. Funduscopy showed slightly pale optic nerve heads, which remained unchanged over the next 8 years; visual evoked potentials were normal. She had bilateral mixed hearing loss of 60 to 70 dB. At 7 months of age, she began to have generalized seizures and continued to have 10 to 15 convulsions per day despite extensive antiseizure medication. She had very severe developmental retardation, reacting to tactile stimuli and able to smile, but with no other motor abilities. At 2 years of age, her length was in the 10th centile and weight in the 25th centile, and she remained in those centiles until her death at 8 years of age from bronchopneumonia. Hennekam and Beemer (1992) noted similarities to the patient described by Wolach et al. (1990).

Salpietro et al. (2009) reported a 16-year-old girl, born of nonconsanguineous parents, who at 3 years of age developed diffuse macules and papules on the neck and trunk, but did not have pruritus, feeding difficulties, or recurrent infections. She had mild mental retardation and hypotonia. Examination at 16 years of age revealed diffuse hyperpigmented macules and papules on the trunk, with fewer over the limbs; however, her face, scalp, palms, and soles were spared. Dermatographism was also present. She had microcephaly and a triangular face, with prominent supraorbital ridges, upward-slanting palpebral fissures, wide nasal bridge, long and prominent nose, hypoplastic nares, full lips, high-arched palate, micrognathia, bilateral short ears, long slender fingers, left complete distal palmar crease, camptodactyly of the right fifth finger, and small asymmetric feet, with the left foot being 2 cm shorter than the right. Laboratory studies, abdominal ultrasound, cardiologic evaluation, and ophthalmologic and audiologic examinations were all normal. Radiographs demonstrated a dislocation of the right proximal fifth finger interphalangeal joint, and skin biopsy showed prominent mast cell infiltration and confirmed the diagnosis of cutaneous mastocytosis. Salpietro et al. (2009) noted similarities to the patients previously reported by Wolach et al. (1990) and Hennekam and Beemer (1992), except for lack of feeding problems or hearing loss in the present patient.