先天性外胚葉發育異常による無汗症について

Hereditary ectodermal dysplasia of the anhidrotic type

　無汗症を伴う先天性外胚葉發育異常は極めて稀な疾患であつて，その定型的なものは海外に於いてもあまり多くはない。こゝに報告する一症例は本邦に於ける第一例と思われる。

　外胚葉障碍による無汗症を初めて詳細に記載したのはThurmann （1948）であり，それに伴う老人性變化を擧げたのはGilfordである。それ以後Congenital ecto-dermal defectと呼ぱれて來たが，Lord等（1938）及びThannhauser （1936）は，この命名では多くの不定型的な症例，時とのては無汗を伴わないもの迄が報告されている點を指摘して，先天性外胚葉障碍の内Anhidrosis，　Hypotrichosis，及びAnodontiaを三主徴候としているものをHereditary ectodermal dysplasia of the　anhidrotic typeと呼んで區別することを提唱している。Thannhauserは更に副腎髄質の機能不全と，頭蓋骨の異常をその主要症状として擧げた。

Although there are not a few reports of the congenital ectodermal defect with or without anhydrosis, "The hereditary ectodermal dyspla-sia of the anhydrotic type (Lord)," having triad of Anhydrosis, Hypotrichosis and Anodontia, has been reported very rarely.

The authors would make a report here of the typical case of it, which may be the first one in Japan.

The patient named M. T., male 24 years old, has never perspired by nature. Encephalitis, meningitis, typhoidfever, or other serious diseas-es are all denied. His Wassermann reaction is negative. One of his anticedents, who seems to be affected by the same disease as his, is not exactly examined.

His skin is always dry, having not a lanugo, but scanty hair. His prominent forehead and remarkable saddle nose shows a typical "Mittel Gesicht (Schneider)". All teeth are absent, and strong fetor ex ore, chronic laryngopharyn-gitis, rhinitis atrophicans exist. Hoarseness is intensified under a hot weather.

Remarkable atrophy of os maxillaris, man-dibularis and nasalis are observed in the cranio-graph. Sinus maxillaris and frontalis are small and compressed, exostosis of the cranium be-ing not recongnized. Turky saddle is almost normal.

Superficial sensations are very slightly dis-turbed in approaching towards lower extremiti-es, on the contrary, deep sensations are nor-mal. Except the knee reflex and cremaster one, all reflexes are weak or absent with no pathologic sign and no clonuses accompanied. Examination of the cerebrospinal fluid and blood shows no peculiar changes.

Functions of liver and kidney are normal.

Hypofunction of the autonomic nervous sys-tem is generally observed.

The thermoregulatory perspiration was exa-mined by means of Minor's iodid starch method in the perspiration room at 40℃. Slight per-spiration was hardly observed at head, face, axilla, palm, poplitear region and in the middle of the back.

Subcutaneous injection of pilocarpine (0.7cc) was not effective.

His body temperature is related comparative-ly to the room temperature, but not to the humidity and the skin temperature measured by the cupper-constantan thermo-junction is higher than normal.

Histological findings of the skin at the inner side of upper arm exhibit a total absence of sweat glands, sebaceous glands and follicles.