1/4. Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism.BACKGROUND: incontinentia pigmenti (IP) is an X-linked genodermatosis that is manifested by neonatal inflammatory vesicles localized along the lines of Blaschko. These lesions usually clear spontaneously within a few months, leaving hyperpigmentation. Ophthalmologic and neurologic symptoms can be associated with IP. Late recurrences of the first-stage inflammatory lesions after the initial rash are uncommon and have been reported infrequently. The mechanism involved in this phenomenon is unclear. However, the recent identification of NEMO/IKKgamma as the gene responsible for IP sheds new light on its pathophysiologic origins. OBSERVATIONS: We report 5 cases of children who experienced episodes of late reactivation of IP. In all cases, the recurrences occurred on the previously hyperpigmented streaks several months or years after resolution of the initial eruptions. In most cases, the recurrences were preceded by an infectious episode. CONCLUSIONS: These IP recurrences suggest that mutated cells can persist a long time in the epidermis. We theorize that infections trigger the reactivations. The NEMO/IKKgamma gene encodes a protein essential in nuclear factor kappaB activation, which is required for resistance to tumor necrosis factor alpha-induced apoptosis. We discuss the role of a proinflammatory cytokine such as tumor necrosis factor alpha as a triggering factor for the reactivation.- - - - - - - - - - ranking = 1keywords = dermis (Clic here for more details about this article) |
2/4. Acrokeratoelastoidosis.A 45-year-old white woman presented with several years' history of firm, shiny papules on the lateral hands with slight extension to the dorsal fingers. The lesions first appeared between the index fingers and thumbs on both hands. They gradually increased in number, coalescing into plaques and affecting the junction between the palmar and dorsal skin. The patient did not have involvement of her feet. She had been diagnosed previously with chronic eczema that had failed to respond to multiple topical medications. In addition, the patient's sister had similar lesions on both hands. The patient denied any symptoms of hyperhidrosis, excessive sun exposure, or trauma. The plaques were asymptomatic, but were cosmetically unappealing to the patient. On physical examination, small, firm, skin-colored, hyperkeratotic papules, coalescing into plaques, were located on the junction between the palmar and dorsal skin on both lateral margins of the thumb and on the radial side of the index finger (Fig. 1). There were no lesions on the feet. A biopsy taken from a papule on the patient's left hand was consistent histologically with acrokeratoelastoidosis. The biopsy showed marked degeneration of collagen in the dermis with solar elastosis and some smudging of the papillary dermal collagen (Fig. 2). She was treated with clobetasone cream to the affected areas on the hands. After 6 weeks of treatment, she reported no significant improvement.- - - - - - - - - - ranking = 1keywords = dermis (Clic here for more details about this article) |
3/4. A case of erythrokeratoderma variabilis: loosened gap junctions in the acanthotic epidermis.A 15-year-old Japanese female without contributory personal or family medical history had demonstrated irregular, keratotic plaques in the lower extremities since infancy that had been gradually enlarging. The keratotic plaques showed partial erythematous change, which altered shape over a relatively short period, leaving pigmentation. The biopsy specimen taken from the erythematous, keratotic plaque showed typical church-spire-like papillomatosis with acanthosis, and thickening of granular and horny layers. Gene analysis targeting connexin 30.3 and 31, based on the diagnosis of erythrokeratoderma variabilis, did not demonstrate any abnormality of these genes. However, ultrastructural observation disclosed an increased amount of gap junctions, some of which showed four layers on high-powered electron microscopy, suggesting loosened connection of the plasma membrane of the keratinocytes through the gap junctions. This loosened gap junction structure was also observed in a case of lamellar ichthyosis, examined as a reference. The disturbed cell-to-cell interaction through latent damage to the gap junctions may be related to the keratotic changes of the epidermis in these skin diseases.- - - - - - - - - - ranking = 5keywords = dermis (Clic here for more details about this article) |
4/4. Peeling skin syndrome: 11 cases from saudi arabia.BACKGROUND: Peeling skin syndrome (PSS) is a rare genodermatoses of probable autosomal recessive inheritance. In saudi arabia, consanguinity of parents is common and consequently the occurrence of familial disease, including that of the skin, is not uncommon. methods: To characterize the clinical and pathological features of PSS in saudi arabia, we reviewed the medical records and clinical photographs of patients with recurring blistering diseases and conducted a histopathologic evaluation of skin biopsies to identify the site of cleavage. RESULTS: Eleven patients with PSS were seen at King Khalid National Guard Hospital in Jeddah between the years 1986 and 2005. Ages ranged between 2 and 15 years and there were 9 males (81.8%) and 2 females (18.2%). The most common presentation in the majority of patients was localized spontaneous peeling of the skin. Eight patients (72.7%) had a history of vesicles that were small, dry and peeled away. Trauma did not play a role in blister formation. All patients were local from Bedouin tribes where a family history of a similar complaint was documented in 8 cases (72.7%) and consanguinity of marriage was evident in 6 patients (54.5%). Histological examination of skin biopsies showed either intracorneal or superficial subcorneal cleavage above the granular layer in all biopsied patients. CONCLUSION: Although rare, PSS occurs in saudi arabia and is most likely related to consanguinity of marriages. This disease is generally mild and is characterized by intracorneal cleavage within the superficial epidermis. The disease should be recognized and not confused with other vesicobullous disease.- - - - - - - - - - ranking = 1keywords = dermis (Clic here for more details about this article) |