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Disorders of Keratinization and Other Genodermatoses
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Roselyn Stanger, Nanette Silverberg
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.
Dermatology
Published in Rachel U Sidwell, Mike A Thomson, Concise Paediatrics, 2020
Rachel U Sidwell, Mike A Thomson
Autosomal recessive, autosomal dominant or acquired. Pathogenesis is due to defect(s) in elastin (exact mechanism unknown). Acquired cutis laxa appears during childhood and may follow a febrile illness; connective tissue disease, e.g. SLE, amyloidosis; inflammatory skin condition, e.g. erythema multiforme; or occur in babies from women on penicillamine.
To what extent should surgical excision be implemented to port-wine stains, and when?
Published in Byung-Boong Lee, Peter Gloviczki, Francine Blei, Jovan N. Markovic, 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.
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
Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report
Published in Fetal and Pediatric Pathology, 2022
Yi Ariel Liu, Chieko Chijiwa, Christopher P. Dunham, Douglas H. Jamieson, Alfonso Solimano, Julianne van Schalkwyk, Millan S. Patel, Anna F. Lee
Autopsy demonstrated a female near term infant, appropriately grown for 36 weeks of gestation. Craniofacial dysmorphic features included hypertelorism, short palpebral fissures, low set posteriorly rotated ears, pointed nose, large anterior fontanelle, and retrognathia. Cephalohematoma was confirmed. The extremities were notable for broad hands with tapered fingers and broad thumbs, bilateral camptodactyly, especially of digits 2-3, and deep creases between toes. The skin covering the extremities was wrinkled and redundant, raising the possibility of cutis laxa (Fig. 1). However, skin biopsy showed nonspecific histology with appropriately distributed elastic fibers on elastin stain. There was no atypical coiling, fragmentation, or clumping of the elastin fibers, and no complete loss of elastin fibers that would be consistent with cutis laxa. Postmortem skeletal survey demonstrated a fracture of the left parietal skull, and bilateral hip dislocations with metaphyseal sclerosis (Fig. 2). Other skeletal survey findings included a vertical skull base and beaded costovertebral joints. Autopsy additionally revealed a fracture at the occipital base of skull. Histologic analysis of the fractures showed fracture-associated hematomas with no bony remodeling, consistent with early fracture repair. Neuropathology examination revealed bilateral acute to subacute periventricular hemorrhages, with concomitant and extensive right frontal lobe hemorrhage extending to the intraventricular and subarachnoid spaces. Subacute hypoxic-ischemic injury with gliosis was also identified, suggestive of an insult sustained in the perinatal period. Brain development was normal for age. Ocular structures were normally formed. Hypoxic-ischemic changes were seen in the liver (as patchy necrosis and cholestasis), and the kidneys, adrenals, and lymph nodes (as petechial hemorrhages). The thymus showed stress-related cortical atrophy. Placental examination disclosed no additional contributory findings.