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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations

Fig. 1

Clinical manifestations in the affected sibs. a Pedigree of the patients’ family. The arrow points to the index case. b Skin and cutaneous adnexa signs of II-1. To note sparse eyelashes, absent eyebrows, dysplastic nails, atrophic areas and diffuse erythema on the lower part of the leg. c Dermatologic changes of II-2. Rare eyelashes and eyebrows, pachyonychia, marked skin atrophy and hypopigmentation with focal areas of erythema at extensor limb surfaces and erosions on the legs are shown. d Tomographic scan of the chest of II-1 (7y) and II-2 (5y). Note the diffuse distortion of the pulmonary structure and multiple peripheral areas with reduced density/diffuse ground glass opacity suggesting air-trapping. e Renal ultrasound of II-1 (13y) and II-1 (9y) reveals the absence of structural defects in kidneys. A mild asymmetry of the left kidney can be seen for II-1

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