Ligia Aranibar

Postnatal 2- and 3-Dimensional Sonography of the Skin and Nail in Congenital Autosomal Recessive Ichthyosis Correlated With Cutaneous Histologic Findings

The ichthyoses are a heterogeneous group of cornification disorders characterized by generalized hyperkeratosis or scaling of the skin. There are both inherited and acquired forms.1 The most infrequent form of presentation of the ichthyoses is lamellar or congenital autosomal recessive ichthyosis, which presents at birth and implies a mutation in at least 3 loci of the chromosomes.2 This condition is usually nonlethal and presents a normal life expectancy. Nevertheless, congenital autosomal recessive ichthyosis shows anatomic changes that may elicit numerous problems. Clinically, these infants are born with a membrane that appears as an extra layer of the skin with an erythrodermic base, also called a “collodion membrane.” The skin of these infants had a more rigid structure, which commonly causes other clinical problems such as eversion of the eyelids (ectropion) and lips (eclabion). Also, abnormal thickening of the skin of the palms and soles (palmoplantar keratoderma) and ungual dystrophies may be detected, among other changes. Congenital autosomal recessive ichthyosis differs from another type of congenital ichthyosis called the “harlequin type.” The latter form is the most severe presentation among the spectrum of congenital ichthyoses and is usually lethal. To date, the reports about the use of sonography for congenital ichthyosis available in the literature are mostly related to the harlequin type,3–5 which also has clinical findings similar to the ones already described for congenital autosomal recessive ichthyosis; however, additionally, the infants with harlequin ichthyosis commonly have severe cranial and limb deformities. Thus, the harlequin name was originated because of both the infant’s apparent facial expression and the diamond shape of the scales of the skin (Arlecchino’s costume), which are caused by severe hyperkeratosis. Uneven skin is among the changes already reported in prenatal sonography of infants with harlequin ichthyosis; in addition are some reports in the literature have described the use of prenatal 3and 4dimensional sonography to study these infants.6–8 On the other hand, as far as we know, there are no reports in the literature about the postnatal sonographic changes in the skin and nails that can be detected in children that have the less severe form of congenital ichthyosis. Furthermore, because of the rarity and diffuse involvement of this disorder, it may pose diagnostic and management challenges for physicians. The aim of this letter is to assess the potential of sonography to determine the cutaneous and ungual anatomic changes in congenital autosomal recessive ichthyosis in correlation with skin histologic findings. The case is a 5-month-old child that was born from nonconsanguineous parents and by cesarean delivery. No medications or drugs were reported as used or prescribed during pregnancy, and there was no family history of ichthyosis. This infant was the third child of the family and after birth had extensive scaling of the skin with an erythematous base, thick crusts in the scalp, and rigid skin. The patient also had ectropion, eclabion, and hypoplasia of the nasal and auricular cartilages and ungual dystrophy in all nails (Figure 1A). Color Doppler sonography of the skin and nails was requested to evaluate the anatomic changes. The examination was performed according to a technique previously reported for studying the skin and nails,9,10 using a multichannel machine with a compact linear probe ranging from 7 to 15 MHz (HDI 5000; Philips Healthcare, Bothell, WA). The child was sedated with chloral hydrate (50 mg/kg) before the test and after the informed consent was signed by the parents. The examination was performed according to the Helsinki principles of medical ethics. The Institutional Review Board waived provision of additional informed consent for the purpose of this report. A copious amount of gel was applied over the skin and nail surface, and the child stayed in the Department of Radiology and was medically supervised (using a modified Aldrete score). The sonographic examination showed whole-body diffuse thickening and hyperechogenicity of the epidermal layer and also diffuse thickening of the nail plates in all fingernails and toenails, in comparison with the previously reported normal sonographic appearances of the skin layers and nails.9,11 In addition, the interplate space (the hypoechoic space between the ventral and dorsal ungual plates) was absent in all nails. Furthermore, the plantar epidermis on both feet showed mostly a single thick hyper echoic layer instead of the normal bilaminar hyperechoic pattern described in healthy children.12 No signs of hypervascularity were detected within the cutaneous layers. Three-dimensional reconstructions (5to 8-second sweep) of the skin and nails using the software provided in the equipment were performed to highlight the findings (Figure 1, B–E). Histologic examination showed compact hyperkeratosis and slight hyperplasia of the epidermis. The granular layer of the epidermis was unremarkable, and there were no signs of inflammation (Figure 1F).

Congenital Diseases of the Skin

This chapter reviews common congenital diseases that can challenge the clinical diagnoses and can be supported by ultrasound. Thus, congenital pits, fistulae, cysts, hemangiomas, vascular malformations, aplasia cutis, neurofibromatosis, and ichthyosis are among the entities that are covered in this chapter.

A pigmentary skin defect is a new finding in Marshall–Smith syndrome†

Marshall–Smith Syndrome (OMIM 602535) was described initially by Marshall in two infants with a syndrome characterized by accelerated skeletal maturation, failure to thrive, and dysmorphic facial features. We report a new patient with clinical features of Marshall–Smith syndrome with additional findings such as hyperpigmented lines on trunk and the four extremities.

Cutaneous granulomas in Griscelli type 2 syndrome

Griscelli syndrome (GS) is a rare autosomal recessive disease that may compromise the skin, nervous, immune, and lymphoreticular systems as well as solid internal organs. Mutations in genes responsible for cellular membrane trafficking control have been identified. This may explain the dysfunction of melanocytes, neurons, and immune cells. Correlation between genetic defects and clinical manifestations have been reported: neurologic defects are frequent and severe in type 1 GS, milder in type 2, and absent in type 3. Immunological abnormalities such as hypogammaglobulinemia, natural killer cell dysfunction, and infiltration of lymphoid organs are observed only in types 2 and 3. Type 2 GS has a poor prognosis, with rapid development of hemophagocytic syndrome and death in the absence of bone marrow transplantation. Dermatological signs are usually limited to characteristic silvery scalp hair and eyebrows and skin hypopigmentation. Few reports of other cutaneous manifestations in GS have been published. In this case, we describe a child with type 2 GS associated with granulomatous lesions.