Indeterminate cell histiocytosis (ICH) is an extremely rare cutaneous neoplastic disorder. It has the immunophenotypic features of both Langerhans and non-Langerhans cell histiocytosis. We report here a case of a healthy young Chinese woman who presented with disfiguring, thick, infiltrated cutaneous nodules on the face, trunk and extremities which appeared progressively over a period of 4 years. No systemic involvement has been detected so far. Results of a skin biopsy showed diffuse dermal infiltration of histiocytoid cells with indented nuclei and positive staining for S100 and CD1a and negativity for CD207 (langerin). Admixed within were some CD68-positive foamy histiocytes and multinucleated giant cells with focal expression of CD163. Although the clinical presentation is more typical of progressive nodular histiocytosis, the histology and immunoprofile is consistent with ICH. Our report adds to the limited case reports in the current literature of ICH in the Chinese population.
Epidermolysis bullosa pruriginosa is a rare variant of dystrophic epidermolysis bullosa characterized by severely pruritic and cicatricial lesions localized to the extensor extremities. We report a Singaporean Chinese male with epidermolysis bullosa pruriginosa with an underlying novel mutation in the COL7A1 gene. A heterozygous acceptor splice site mutation IVS67-1G>T probably led to in-frame skipping of exon 68 (36-basepairs), resulting in a loss of 12 amino acids. Among his three children, only the youngest son, who had bilateral big toenail thickening, possessed the same mutation. His skin biopsy one decade ago revealed association of focal amyloidosis; a recent skin biopsy showed more established features of lichen amyloidosis. It is debatable whether the cutaneous amyloidosis was a secondary or primary phenomenon. Our report highlights that the diagnosis of epidermolysis bullosa pruriginosa may be obscured when cutaneous amyloidosis is coexistent.
Lipoid proteinosis is a rare autosomal recessive deposition disorder due to loss-of-function mutations in the gene encoding extracellular matrix protein 1 on chromosome 1q21. There are limited case reports of lipoid proteinosis in the Chinese population. The authors report 1 case of lipoid proteinosis in a Chinese patient with typical clinical and histopathological manifestations. Physical examination in this patient demonstrated hoarse voice, hypertrophy of tongue and lips, inability to fully protrude the tongue, and cutaneous features including moniliform blepharosis, verrucous plaques, and scarring. Biopsies from the eyelid, pharyngeal mucosa, and elbow lesions revealed diffuse amorphous deposits of hyaline material within the dermis and around blood vessels, which stained positively for periodic acid-Schiff, was diastase resistant and stained negatively on Congo red.
Sehr geehrte Herausgeber, wir berichten über den Fall einer 70-jährigen chinesischen Frau, die sich mit ungewöhnlichen, seit mehr als 10 Jahren bestehenden Läsionen an ihrem Rücken vorstellte. Die letzten dreißig Jahre hatte sie sich mit Moxibustion und Schröpfen gegen chronische Rückenschmerzen behandeln lassen. Bei der klinischen Untersuchung zeigte sich eine gesunde Patientin mit mehreren, großen, hyperpigmentierten, runden Ringen an ihrem Rücken, die auf das zuvor erfolgte Schröpfen zurückzuführen waren. Die umliegende Haut wies ein netzartiges Erythem und Flecken auf, die sich nicht ausbreiteten (Abbildung 1). Zusätzlich wurden mehrere, runde, atrophische Narben an ihren Schultern festgestellt, im Durchmesser kleiner als 1cm groß, an den Stellen der Moxibustionsbehandlung lokalisiert (Abbildung 2). Die Läsionen waren asymptomatisch. Es wurden keine weiteren Hautveränderungen beobachtet. Eine Hautbiopsie zeigte eine normale Epidermis mit Hyperpigmentierung der basalen Schicht und keine Anzeichen für eine Vaskulitis. Mykologische Tests
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