PubMed · 10088474
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I Kurokawa, S Nishijima. 1999. [Carbuncle].. https://pubmed.ncbi.nlm.nih.gov/10088474/
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We report on a boy with Rapp-Hodgkin syndrome (RHS) or Rapp-Hodgkin ectodermal dysplasia. He had sparse, wiry, slow growing and uncombable hair, but no pili torti or pili canaliculi characteristic of RHS. He also had sparse eyelashes and eyebrows, and obstructed lacrimal puncta and epiphora. Bilateral bony external auditory canal stenosis led to hearing loss. The mouth was small with repaired bilateral cleft lip and palate. Oral manifestations included hypodontia, microdontia, unerupted mandibular premolars with well formed roots, large dental pulp spaces, enamel hypoplasia, multiple caries, glossy tongue, and congenital absence of lingual frenum and of sublingual caruncles including submandibular and sublingual salivary duct openings. Palmo-plantar keratoderma, unerupted premolars, congenital absence of lingual frenum, sublingual caruncles, glossy tongue, and pili canaliculi seen in the patient are newly recognized findings of this syndrome. Overlapping findings of RHS ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), and ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC) are discussed.
A carbuncle usually presents as a deep-seated mass of fistulous tracts between infected hair follicles. We present a case in which what appeared to be an inflamed, benign neoplasm turned out to be a very unusual presentation for this condition, the first we could find in the literature. A 62-year-old woman presented with a bothersome 'mole' on her flank of uncertain duration but it was initially pruritic and irritated by her clothing. Owing to the pain, she wanted its removal. A 1 cm soft, pink, stalked papule revealed multiple, closed,, comedo-like spots on its surface (Fig. 1). The lesion was mildly tender and freely mobile on a broad-based stalk. A pre-biopsy diagnosis of irritated intradermal nevus or neurofibroma was made, and the lesion was blade-shaved flush with the skin surface. Histologically, the papule demonstrated small abscesses which seemed to connect, as well as foci of granulation tissue and marked dermal edema (Fig. 2). Fragments of infundibular epidermis were found throughout the lesion. No residual melanocytic or neural neoplasms were identified.
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