Temperature-sensitive Recurrent, Reversible Auditory Neuropathy in Two Iranian Siblings

Two sibling cases with a temperature-sensitive form of auditory neuropathy from a consanguineous marriage of Iranian descent have been described. They complained about the temporary loss of hearing and compromised speech comprehension after a slight fever or elevating the body temperature by vigorous exercises. A series of tests including brain MRI, pure-tone audiometry, speech audiometry in quiet and noise, tympanometry, reflexometry, TEOAEs, cochlear microphonic, and ABR were performed in a 24-hours interval at both febrile and afebrile states, and results are reported here. This report is the first example of temperature-sensitive auditory neuropathy in this geographical region.

Achenbach’s hand and digital paroxysmal haematomas: a possible association with joint hypermobility syndrome in two sibling cases

A pair of middle-aged sisters is presented who experienced episodes of spontaneous, relatively atraumatic, acute onset, painful sub-cutaneous bleeding into the digits of their hands over a number of preceding years. A literature search revealed they had Achenbach’s syndrome, which is a benign and self-limiting condition that resolves completely within 2–4 days. However, a hitherto unreported association between Achenbach’s syndrome and joint hypermobility with its abnormal collagen is made, along with a tentative causality hypothesis that perhaps in the presence of atypical connective tissue, the architecture and integrity of the peripheral capillary bed of the hand could be adversely affected and therefore predispose towards paroxysmal palm and/or finger bleeds.

Kindler Syndrome : Clinical Particularities about Two Cases Reports in Two Siblings

The Kindler syndrome, the fourth major type of hereditary epidermolysis bullosa (HEB), is a rare autosomal recessive genodermatoses, characterized by trauma-induced blistering, cutaneous atrophy, and progressive poikiloderma, in association with mucosal inflammation. We report tow new sibling cases of this rare syndrome.