The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.

Generalized pustular psoriasis (GPP) is a rare inflammatory skin disease that can be life-threatening. Recently, it has been reported that familial GPP is caused by homozygous or compound heterozygous mutations of IL36RN. However, the majority of GPP cases are sporadic and it is controversial whether IL36RN mutations are a causative/predisposing factor for sporadic GPP.

Acral pseudolymphomatous angiokeratoma of children: a case report with immunohistochemical study of antipodoplanin antigen.

Acral pseudolymphomatous angiokeratoma of children (APACHE) is characterized by multiple angiomatous papules on the hands and feet in children. Here, we report a case of APACHE in a female patient followed up from 13 to 19 years of age with a dark red lesion on the center of the dorsum of the right thigh. Histologically, vacuolar alteration and exocytosis of lymphocytes, and specific dense cellular infiltration beneath the epidermis to the reticular dermis were found.

Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.

Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder caused by mutations in CRLF1 (cytokine receptor-like factor 1), characterized by profuse sweating in cold environmental temperature and craniofacial and skeletal features. Mutations in CRLF1 also cause Crisponi syndrome (CS), characterized by neonatal-onset paroxysmal muscular contractions as well as craniofacial and skeletal manifestations and abnormal functions of the autonomic nerve system. To date, it is an unresolved problem whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions or with different presentations depending on the patients' age at diagnosis.

Histopathological characteristics of malignant melanoma affecting mucous membranes: a unifying concept of histogenesis.

Aims: To investigate histopathological characteristics of melanocytic lesions affecting mucous membranes in various anatomical sites. Particular attention was paid to elucidation of morphological characteristics of early phases of mucosal melanoma in order to contribute to effective detection of this highly malignant neoplasm in the curable stages.

Methods: A total of 87 melanocytic lesions of mucous membranes were investigated histopathologically.