Illustrations
Figure 1
A ) A scaly nodule on the posterior part of the neck (15×15 mm) diagnosed as squamous cell carcinoma (SCC) (yellow arrow), and another nodule (10×10 mm) diagnosed as keratoacanthoma (black arrow). B ) SCC under low magnification; the tumour consists of irregular masses of epidermal cells (haematoxylin-eosin [H&E]; original magnification: ×4). C ) SCC under high magnification; the invading tumour masses are composed of atypical squamous cells that proliferate downward into the dermis (H&E; ×40). D ) Keratoacanthoma under low magnification; in the centre, an irregularly shaped crater filled with keratin is shown and the epidermis extends over the sides of the crater as a lip (H&E; ×4). E ) Keratoacanthoma under high magnification; minimal atypia is seen in the basal layer of the epidermis, however, the tumour did not proliferate downward into the dermis (H&E; ×40). F ) Superficial cervical node metastasis of the left side is indicated by computed tomography (yellow arrow). G ) A previous biopsy indicating metastatic SCC in the lymph node on the left side of the neck (H&E; ×40). H ) Initial examination reveals erythema on the neck; characteristic facial features such as prominent lower jaw and forehead, saddle nose, and thick protrusive lips are also noted. I ) Lymphocytic infiltration in the superficial dermis and spongiosis in the epidermis; orbious atypia is not seen. Sweat glands and sweat ducts are also not present (H&E; ×10). J ) A skin biopsy specimen taken from a site near the SCC revealing carcinoma in situ in the epidermis (H&E; ×40). K )Mutation analysis reveals that the affected individual carried a hemizygous mutation, c.925-2A>C, in intron 7 of the EDA gene. The position of the mutation is indicated by arrows. L ) Electrophoresis of the reverse transcribed PCR products on a 1% agarose gel showing a shorter EDA transcript from the mutant (Mut) allele. GAPDH cDNA was amplified as a control. MWM: molecular weight markers; Wt: wild-type. M ) Schematic representation of splicing events from the wild-type (upper panel) and the mutant (lower panel) alleles. The results of direct sequencing analysis of the EDA transcripts are also shown. The transcript from the mutant allele lacks the 32-bp upstream sequence of exon 8. The deleted sequences are indicated by a red box within the sequence of the wild-type transcript (upper panel). The position of primers is shown by red and blue arrows.
Figure 1
Auteurs
1 Division of Dermatology, Shizuoka Cancer Center Hospital, Shizuoka, Japan
2 Department of Dermatology, Dokkyo Medical University Saitama Medical Center, Saitama, Japan
3 Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
4 Department of Dermatology, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan
5 Division of Head and Neck Surgery, Shizuoka Cancer Center Hospital, Shizuoka, Japan
Hypohidrotic ectodermal dysplasia (HED) is a rare hereditary disorder [1]. Most cases exhibit an X-linked recessive inheritance trait (Mendelian Inheritance in Man no. 305100) and are caused by mutations in the ectodyplasin-A (EDA) gene [2]. We report a case of HED, which harboured a novel mutation in EDA and presented with cutaneous squamous cell carcinoma (SCC).The patient was a 37-year-old Japanese man with a four-month history of two scaly nodules on his neck. He has never sweated since birth. [...]