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Nonmelanocytic Lesions
Published in Ashfaq A Marghoob, Ralph Braun, Natalia Jaimes, Atlas of Dermoscopy, 2023
Nicole Nagrani, Natalie M. Williams, Natalia Jaimes
Vascular malformations are congenital lesions characterized by vascular ectasia secondary to the progressive vascular dilatation of pre-existing blood vessels. The most common vascular malformation of the skin is the port-wine stain (PWS), also known as nevus flammeus. PWS is a capillary malformation resulting from a malformation of the post-capillary venules and dermal capillaries within the papillary and reticular dermis. They appear as blanchable pink to red patches anywhere on the body, but usually in a unilateral or segmental distribution with respect to the midline. PWS are persistent lesions, and although their size may remain relatively stable during life, they can become darker, thicker, and eventually, nodular.4
Bohring−Opitz Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
BOS (also referred to as Oberklaid−Danks syndrome, Opitz trigonocephaly-like syndrome, Opitz C syndrome, C-like syndrome, and Bohring syndrome) is a malformation disorder, which was first described by Bohring et al. in 1999 from four patients who presented with a prominent metopic suture, hypertelorism, exophthalmos, cleft lip and palate, and limb anomalies. The clinical spectrum of BOS has subsequently expanded to include nevus flammeus of the face, upslanting palpebral fissures, hirsutism, trigonocephaly, prominent metopic suture, severe intrauterine growth retardation, poor feeding, profound mental retardation, exophthalmos, flexion of the elbows and wrists with deviation of the wrists, and metacarpophalangeal joints, in addition to tumor risk [2,3]. The identification of de novo frameshift and nonsense mutations in the Asxl1 gene on chromosome 20q11.21 in 2011 suggests that loss of function in this gene underscores the molecular mechanism of BOS [4].
Nonpigmented skin lesions
Published in Giuseppe Micali, Francesco Lacarrubba, Dermatoscopy in Clinical Practice, 2018
PG is relatively common, and it is especially frequent in children and young adults.1–3 It represents 0.5% of all skin nodules in children.4 The exact etiopathogenesis of this condition is unknown. It has been thought to be a reactive hyperproliferative vascular response to a variety of stimuli, such as infective organisms, penetrating injury, hormonal factors, and retinoid therapy. PG usually develops at the site of a preexisting injury, where it evolves rapidly over a period of weeks to a maximum size and then shrinks in a fibroma that can regress within a few months. A few reports of lesions developing in a preexisting nevus flammeus or spider angioma exist.
Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome
Published in Ophthalmic Genetics, 2021
Martina Formisano, Maria Chiara di Pippo, Luca Scuderi, Solmaz Abdolrahimzadeh
DCH is usually associated with SWS that is a rare neuro-oculo-cutaneous syndrome occurring almost entirely sporadically and with equal frequency in both sexes (6). The abnormalities of blood vessel development and function usually involve the brain as leptomeningeal angiomatosis, the ipsilateral facial skin as a naevus flammeus (Figure 1), and the eye with choroidal hemangioma (6). The clinical manifestations have been suggested to arise due to the proximity of the ectoderm destined to form the upper facial skin, the part of the neural tube that forms the parieto-occipital brain and leptomeninges, and the optic vesicle during embryogenesis (7). However, as these anomalies are localized, Happle suggested a somatic mosaic mutation during the first trimester of pregnancy with differences depending on the phase of embryonic development (8). The incidence of DCH in patients with SWS is about 50% (9) and is more common in eyes with naevus flammeus involving the upper eyelid (3).
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy
Published in Journal of Neurogenetics, 2021
Elizabeth A. Burke, Morgan Sturgeon, Diane B. Zastrow, Liliana Fernandez, Cameron Prybol, Shruti Marwaha, Edward P. Frothingham, Patricia A. Ward, Christine M. Eng, Laure Fresard, Stephen B. Montgomery, Gregory M. Enns, Paul G. Fisher, Lynne A. Wolfe, Brian Harding, Blake Carrington, Kevin Bishop, Raman Sood, Yan Huang, Abdel Elkahloun, Camilo Toro, Alexander G. Bassuk, Matthew T. Wheeler, Thomas C. Markello, William A. Gahl, May Christine V. Malicdan
Patient 3 is the second born child of healthy, non-consanguineous parents of Mexican ethnicity (Figure 1(B)) (Zastrow et al., 2019). She was born at term after an uncomplicated pregnancy, with an unremarkable neonatal period. She sat at 8–9 months, crawled at 10 months, achieved walking at 12 months, and had 2–3 words at 13 months. She then began to experience developmental regression with episodes of falling starting around 18 months. Tremors began at 21 months, and seizures at 22 months with occasional myoclonus. She gradually lost all developmental milestones, including head control and language. Two years after her regression began, she had an onset of dysphagia and a G-tube was placed. She started a ketogenic diet which has an excellent effect on her seizure frequency in addition to valproate and supplements. Brain MRI at 2 years was normal, but by 5 years showed mild diffuse atrophy with a slight rounding of the ventricular horns. MRS showed no marked abnormalities. At 7 years of age, she was non-verbal, non-ambulatory, and G-tube dependent with intellectual disability, severe encephalopathy, and myoclonic epilepsy. By the age of 12 years, she experienced tonic-clonic seizures 3 times weekly lasting 30–60 s with smaller myoclonic episodes frequently throughout the day. Cranial nerves showed optic atrophy bilaterally. Although she was generally hypotonic at age 10, her motor exam at 12 years showed low muscle bulk with increased tone and a combination of spasticity and dystonia. She was also noted to have flexion contractures, nevus flammeus on the forehead, scoliosis, and hockey-stick palmar creases.
Corpus Callosum Abnormalities and Short Femurs in Beckwith–Wiedemann Syndrome: A Report of Two Fetal Cases
Published in Fetal and Pediatric Pathology, 2018
Aurélie Beaufrère, Maryse Bonnière, Julia Tantau, Philippe Roth, Elodie Schaerer, Fréderic Brioude, Irène Netchine, Bettina Bessières, Antoinette Gelot, Michel Vekemans, Ferechté Razavi, Delphine Heron, Tania Attié-Bitach
Beckwith–Wiedemann syndrome (BWS) (OMIM #130650) is the most common overgrowth syndrome [1–3]. Molecular heterogeneity is observed in BWS with several genetic and/or epigenetic alterations in imprinted growth regulatory genes at 11p15.5 [1–5]. Approximately 85% of reported BWS cases are sporadic, while the remaining 15% are familial [5]. Clinical features are highly variable, including neonatal macrosomia, post-natal overgrowth, abdominal wall defects (omphalocele, umbilical hernia, diastasis recti), macroglossia, organomegaly, nephro-ureteral malformations, ear anomalies, capillary malformations (hemangioma and nevus flammeus), hypoglycemia, and predisposition to develop embryonic tumors in infancy [1,3,6]. Placenta anomalies are also observed [7,8]. Possible patterns include autosomal dominant inheritance with variable expressivity, contiguous gene duplication at 11p15, and genomic imprinting resulting from a defective or absent copy of the maternally derived gene. Specific phenotype–epigenotype correlations have been reported and recurrence risk estimation is guided by the molecular etiology [5]. Brains malformations were occasionally reported, mainly posterior fossa abnormalities [9–14].