tag:blogger.com,1999:blog-9870114.post8300171160067337271..comments2024-03-10T08:41:32.400+00:00Comments on VIRTUAL GRAND ROUNDS IN DERMATOLOGY 2.0: 14 yo boy with a genodermatosisHumane Medicine Huihttp://www.blogger.com/profile/07113291188306363130noreply@blogger.comBlogger3125tag:blogger.com,1999:blog-9870114.post-24063236851464255662010-05-10T16:47:49.222+00:002010-05-10T16:47:49.222+00:00Other DDX KID syndrome
Any HX of photosensetivity?...Other DDX KID syndrome<br />Any HX of photosensetivity?<br />any PP Keratoderm<br /><br />Need to R/o PCT and other porphyriasultannoreply@blogger.comtag:blogger.com,1999:blog-9870114.post-1905611881044885672010-05-09T14:32:34.054+00:002010-05-09T14:32:34.054+00:00This case probably is a variant of hereditary acro...This case probably is a variant of hereditary acrokeratotic Poikiloderma in which Poikiloderma is preceded by a tendency to blistering following traumatic blisters.<br />The rare association of two congenital diseases, epidermolysis bullosa dystrophica and poikiloderma, leads to the diagnosis of a Kindler syndrome.<br />Other thought XP. The determining causes the XP are from searching in the altered mechanism of repair of the DNA. In normality conditions, the fragment of the altered DNA comes eliminated and replaced from a new fragment syntetized, according to the called mechanism "excision-repair. The basic defect of the XP is from searching in the excision-repair of nucleotide, the NER (Global Genome GG NER - Transcription Coupled TC NER), that it determines altered repair of the DNA damaged from the ultraviolet rays. Eight types of Xeroderma Pigmentosum exsist: every type is characterized from one different genetic alteration of the repair system of the DNA. The diagnosis, beyond that clinical, can be carried out in laboratory, measuring the defect of repair of DNA. This test comes executed using skin or blood of the patient.<br />I agree with gsakamoto, if possible, genetic testing should be performed.<br /><br />Prof. C. Di Cicco,MDcamdichttps://www.blogger.com/profile/11059367249719216572noreply@blogger.comtag:blogger.com,1999:blog-9870114.post-51379531608308000522010-05-08T17:44:53.724+00:002010-05-08T17:44:53.724+00:00Aloha from Hawaii. This is a sad and rather unusu...Aloha from Hawaii. This is a sad and rather unusual case, not your typical "slam dunk" genoderm diagnosis as it does not fit perfectly under one diagnosis. The patient does have some key features of Rothmund-Thompson syndrome including the early bullae formation on the scalp, the photosensitivity and what looks to be poikiloderma in some of the photos. Does the patient have any skeletal abnormalities? There are a handful of cases of Rothmund Thompson syndrome in association with verrucous lesions. If possible, genetic testing should be performed (trisomy 8 mosaicism). There are a few places in the United States that perform genetic testing, the details of which escape me at the moment. Will post later if I recover this info. Diagnosis with genetic confirmation I feel is very important as the patient can be monitored closely for secondary complications such as malignancies.<br /><br />Other thoughts:<br />1. Kindler syndrome- AR, defect in KIND1 that leads to congenital acral bullae, poikiloderma, and photosensitivity. One case of kindler syndrome a/w verrucous lesions.<br /><br />2. Very unusual form of incontinentia pigmenti with mosaicism (highly doubt, but worth mentioning)<br /><br />3. Ichthyosis hystrix can present with verrucous epidermal nevi and blisters, although it sounds like the warts were confirmed histologically.gsakamotohttps://www.blogger.com/profile/11413955620531843160noreply@blogger.com