Discussion The index patient presented with seizures and generalized hypotonia. [ncbi.nlm.nih.gov]

We are reporting a case of congenital ARCLIIa, in a child who had primarily presented with right-sided pneumonia. [mansapublishers.com]

Follicular hyperkeratosis was present on cheeks, preauricular, temporal, and submandibular areas with a background of erythema and brownish pigmentation similar to Erythromelanosis follicularis faciei et colli. [journals.lww.com]

The infant presented in the above clinical case had novel homozygous mutation in PYCR1 gene which is likely pathogenic variant of autosomal recessive cutis laxa type 2B/3B [3]. PYCR1 gene helps in synthesis of proline from glutamate. [link.springer.com]

The autosomal dominant form of cutis laxa has a benign course; primarily, skin involvement is present, with few, if any systemic complications, and a normal life expectancy. [emedicine.medscape.com]

• Amyloidosis

  Cutis laxa associated with amyloidosis. Clin Exp Dermatol. 1986 Jan. 11(1):87-91. [QxMD MEDLINE Link]. Tan S, Pon K, Bargman J, Ghazarian D. Generalized cutis laxa associated with heavy chain deposition disease. [emedicine.medscape.com]

• Small Teeth

  Patients with the syndrome may have reduced skin elasticity, dental abnormalities (small teeth, delayed eruption, caries), and delayed closure of the fontanel (Hucthagowder et al. Hum Mol Genet 18:2149–2165, 2009; Morava et al. [preventiongenetics.com]

• Muscle Hypotonia

  Developmental delay was observed in the majority of the children, partially due to muscle hypotonia, and in some degree hyperflexible joints. [nature.com]

• Large Anterior Fontanels

  Generalized cutis laxa, brittle hair, microcephaly, large anterior fontanel (6 × 5 cm), midfacial hypoplasia, anteverted nares, down-slanting palpebral fissures, epicanthal folds, highly arched palate and strabismus were noted after birth. [nature.com]

• Prominent Nasal Root

  nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). [findexpertmd.com]

• Apraxia

  Ataxia-Oculomotor Apraxia 810,75€ Add to cart Friedreich ataxia Friedreich ataxia 598,00€ Add to cart Episodic ataxia type 1 Episodic ataxia type 1 1 023,50€ Add to cart Episodic ataxia type 2 Episodic ataxia type 2 631,35€ Add to cart Episodic ataxia [bioarray.es]

  APTX Ataxia con apraxia oculomotora e hipoalbuminemia de inicio temprano AR DESCRIPCIÓN Ataxia con apraxia oculomotora e hipoalbuminemia de inicio temprano: Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid [genaden.com]

We suggest a simple and practical diagnostic approach for the workup of patients with a suspected autosomal recessive cutis laxa (Figure 5). [nature.com]

Legend How to query Individual ID ID_report Reference Remarks Gender Consanguinity Country Population Age at death VIP Data_av Treatment Disease Phenotype details Genes screened Variants in genes Variants Panel size Owner 00289442 3022 - - F no Italy [databases.lovd.nl]

In view of history of a cousin having similar findings which had self-resolved overtime without any treatment, we further suspected it to be type 2A variant, which was proven by genetic analysis (ATP6V02 gene). Hence, we wish to report this case. [mansapublishers.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

Prognosis The lifespan of some patients with cutis laxa (elastolysis) may not be significantly decreased. Patients with the autosomal dominant form have a normal life expectancy. [emedicine.medscape.com]

The presence of the metabolic alteration has consequences both for organ involvement, prognosis assessment and counselling. [nature.com]

Next generation sequencing was performed in genetically unsolved patients with progeroid features, neurological and eye involvement to assess the underlying etiology. [scinapse.io]

In cutis laxa patients mutations have been demonstrated in elastin or fibulin genes, but in the majority of patients the underlying genetic etiology remains unknown. [nature.com]

Epidemiology Cutis laxa (elastolysis) is rare. Congenital forms of cutis laxa are more common than acquired disease. The recessively inherited form is most frequent and most severe. Autosomal dominant forms also exist. [emedicine.medscape.com]

Zurück zum Zitat Marsden CD, Hallett M, Fahn S (1983) The nosology and pathophysiology of myoclonus. In: Marsden CD, Fahn S (eds) Movement disorders. [springermedizin.de]

Pathophysiology Cutis laxa (elastolysis) is characterized by degenerative changes in the elastic fibers resulting in loose, pendulous skin. The skin is sagging, redundant, and stretchable, with reduced elastic recoil. [emedicine.medscape.com]

Pathophysiological aspects in ARCL type II patients with a ATP6V0A2 defect As described above, a large number of families with ARCL type II or WSS2, 22 with a distinct phenotype showed loss-of-function mutations in the a2-subunit of the V-type H+-ATPase [nature.com]

Am J Med Genet A 164A:1245–53 Article PubMed Google Scholar Marsden CD, Hallett M, Fahn S (1983) The nosology and pathophysiology of myoclonus. In: Marsden CD, Fahn S (eds) Movement disorders. [link.springer.com]

In ARCL1A, the mutations in both copies of this gene cause an altered structure of the protein product, preventing its transport out of the cells where it is produced and into the extracellular matrix. [cutislaxa.pitt.edu]

Variants in ATP6V0A2 impair Golgi vesicle trafficking and prevent the production of functional glycosylation. This results in reduced or abnormal elastic fiber formation. [preventiongenetics.com]

Management of individuals with cutis laxa includes treatment of symptoms, such as surgical repair of hernias, medications such as beta-blockers may be considered to prevent growth of aortic aneurysms, and pulmonary emphysema is treated symptomatically [cutislaxa.org]

Acquired cutis laxa type II, also called Marshall syndrome, has been reported as secondary to Sweet syndrome (acute febrile neutrophilic dermatosis) in a child. [11] Treatment No treatment exists to prevent disease progression, although dapsone can be [emedicine.medscape.com]