To what extent should surgical excision be implemented to port-wine stains, and when?
Byung-Boong Lee, Peter Gloviczki, Francine Blei, Jovan N. Markovic in Vascular Malformations, 2019
For patients where surgical resection is indicated (as described earlier), precise treatment planning is important. Due to the vasculogenic defect in capillary malformations, the formation of pathological vascularization is an inborn error of this region, so that even after the radical resection with free flaps, pathological vessels may occur. Therefore, a coordinated procedure has to be planned. This procedure should include several laser sessions, not only with flashlamp-pumped pulsed-dye laser (FPDL) but even with near-infrared lasers (described in Chapter 88).2, 3 As much of a reduction of the pathological vessel should be achieved as is possible (Figure 89.1). Then, in the interval, surgical resection of the cutis laxa and other excessive tissue can be performed. In case of deformity of denture, proper surgery for mandibular bone correction can be added to reconstitute the function.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow in Fetal and Perinatal Skeletal Dysplasias, 2012
Allelic conditions: occipital horn syndrome is caused by mutations in the same gene and presents later. Affected individuals are long and thin with bilateral herniae, chronic diarrhoea, redundant skin as in cutis laxa, bladder diverticula causing obstruction and hydronephrosis. The digits are hypermobile, but elbows and knees have limited extension. There is carpal fusion and the clavicles are short with a hammer-shaped distal end.
Disorders of Keratinization and Other Genodermatoses
Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang in Roxburgh's Common Skin Diseases, 2022
Differential diagnosis: Cutis laxa is another inherited disorder that can present with lax skin and multi-organ involvement, yet it is due to mutations in either FBLN5 or Elastin or ATP7A. Noonan syndrome, another RASopathy, can have similar clinical features, such as short stature, developmental delay, macrocephaly, curly hair, low-set ears, and cardiac abnormalities.
A case of alopecia as IgG4-related skin disease
Published in Modern Rheumatology, 2019
Takaharu Ikeda, Chikako Kaminaka, Fukumi Furukawa
Ordinary alopecia areata is characterized by bulbar inflammation. Perifollicular and intrafollicular lymphocyte infiltration of the lower bulb (the so-called “swarm of bees”) and inflammation in the upper dermis in the early stages were reported [8]. In our case, lymphocytes, predominantly CD4-positive cells infiltrated densely perifolliculary around the upper and lower parts of follicles focally and infiltrated intrafolliculary especially in the upper parts. Although for ordinary alopecia areata there are no reports about IgG4-positive cells, the IgG4+/IgG + ratio and numbers of IgG4-positive cells infiltrated perifolliculary including bulbs fulfilled the histological diagnostic criteria proposed in a consensus statement about IgG4-related skin disease [5]. We determined that the present case was not alopecia areata, but alopecia as the IgG4-related skin disease. Acquired cutis laxa is reported to be associated with inflammatory diseases, medications, and underlying hematologic disease, such as gammopathy. Although histological examination did not show changes of the elastic fibers, IgG4-RD may occur with this disorder.
Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis
Published in Ultrastructural Pathology, 2018
Rosalyn Jewell, Paul Brewer, Sophie Stenton, Ian R Berry, Sue Chatfield, James A Fernandes, Cesar Peres, Bart E Wagner, Christopher Bennett
The classical histological findings of cutis laxa also include loss of, and fragmentation of elastic fibers within the reticular dermis.21 The autosomal dominant and recessive subtypes of cutis laxa share similar histological findings and as such there is no single pathognomonic feature that can separate these entities. Acquired cutis laxa is a rare disorder of insidious onset, often presenting in adults following an inflammatory skin condition and as such, histological sections of skin show a prominent dermal inflammatory cell infiltrate.21,22
Emphysema: looking beyond alpha-1 antitrypsin deficiency
Published in Expert Review of Respiratory Medicine, 2019
Rob Janssen, Ianthe Piscaer, Frits M. E. Franssen, Emiel F. M. Wouters
Cutis laxa is characterized by inelastic skin and is caused by mutations in genes that are involved in either elastin restoration or copper transportation. Emphysema is a frequent complication of cutis laxa, which exemplifies that erroneous elastin repair may also be a cause of emphysema in humans [74].