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Objective: The classic triad, which defines IFAP syndrome, is ichthyosis follicularis, alopecia, and photophobia. It is a rare X-linked genetic disorder characterized by multiple congenital anomalies with variable severity, caused by pathogenic variants in the MBTPS2 gene, which encodes a zinc metalloprotease that is essential for normal development. This study aimed to report a case of a Brazilian patient with IFAP syndrome presenting skeletal anomalies, which is a rare finding among patients from different families. Case description: We describe a male proband with IFAP syndrome showing severe ichthyosis congenita, cryptorchidism, limb malformation, and comprising the BRESHECK syndrome features. Using whole-exome sequencing, we identified a rare missense variant in hemizygosity in the MBTPS2 gene, which had not been identified in other family members. Comments: This is the first diagnosis of IFAP syndrome in Brazil with a molecular investigation. The present case study thus expands our knowledge on the mutational spectrum of MBPTS2 associated with IFAP syndrome. [ABSTRACT FROM AUTHOR]

Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diagnosis but ultrasonography in places was not available. [ABSTRACT FROM AUTHOR]

Abstract Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diagnosis but ultrasonography in places was not available.

Skin biopsies from a collodion baby, spontaneously healing at the end of the third month, were taken on the 1st and 15th day after delivery and examined by light and electron microscopy. The microscopical features observed were different from those known to occur in collodion babies evolving into lamellar ichthyosis and may contribute to a more precise, early diagnosis and prognosis of this heterogeneous neonatal syndrome.

Two unrelated children presenting with mental and physical retardation and sulphur deficient brittle hair are reported. These are thought to be further cases of the autosomal recessive neurotrichocutaneous syndrome of Pollitt, of which eight cases have been previously reported.

The first born offspring of first-cousin parents was affected with a keratinization disorder thought to be nonbullous congenital ichthyosiform erythroderma (CIE). In each of three subsequent pregnancies, the parents elected to have prenatal diagnosis based on evaluation of fetal skin biopsies. The epidermis of fetus 1 was identical to normal 21-wk estimated gestation age (EGA) fetal epidermis, but because keratinization begins normally around 24 wk EGA, the procedure was repeated 4 wk later. A thin epidermis with a few layers of stratum corneum indicated a normal fetus and a healthy infant was born at term. Skin biopsy samples from fetus 2 gave conflicting results; the epidermis of one sample appeared normal but the second had 5-15 layers of incompletely keratinized cells superficial to basal and intermediate layers. The hair canals of both samples were hyperkeratotic. Pelleted amniotic fluid cells contained aggregates of incompletely keratinized epidermal cells and concentric rings of keratinized cells. The fetus was thought to be affected and the pregnancy terminated. Regional variation in epidermal thickness and keratinization was noted upon gross examination of the fetus and by histology of the skin. Marked hyperkeratinization of follicles was evident in all regions. No abnormal keratins were expressed in the affected epidermis but epidermal lipids analyzed from two body regions had a lower triglyceride content and a higher content of free sterols compared with age-matched, normal fetal epidermis. Immunolabeling for markers of differentiation revealed variable stages of epidermal differentiation according to region. Four structurally identical biopsy samples were obtained from a third fetus. The epidermis appeared normal for age and hair canals were keratinized to various extents. The pregnancy was continued and at 33 wk a male infant was born with a severe ichthyosis of the face and scalp and fine, white scaling on the body. The epidermis of both the severely and mildly affected regions of the newborn had a thick, compact stratum corneum and other features of CIE. Scars from all four fetal biopsies were identified on the trunk, in areas which appeared less affected clinically. This study reports, for the first time, the criteria for prenatal diagnosis of CIE and the variable expression of this disorder in the midtrimester fetus. More importantly, it demonstrates the risks and pitfalls of this in utero diagnosis based on epidermal morphology.

A syndrome with severe generalized congenital ichthyosis, alopecia, eclabion, ectropion and mental retardation without neurological symptoms or macular changes in the eyes was seen in two sibs and in two aunts and uncles in an inbred North-Swedish family. The clinical picture of the patients in the present family strongly deviated from that seen in the Sjögren-Larsson syndrome found in the same area. This could be a new syndrome with autosomal recessive inheritance.

Two sibs are described with Sjögren-Larsson syndrome. Another sib died in early life with signs which appear to be indicative of the same condition. In the two cases studied we have documented signs of peripheral nerve involvement (not previously reported in the literature) which point towards a pathological process acting on ectodermal structures to a greater extent than has previously been considered.

A new congenital ichthyotic syndrome inherited as an autosomal recessive is described in three propositi of an Iranian family. The main clinical features are non-bullous congenital ichthyosis, mental retardation, dwarfism, and renal impairment. The nephropathy which previously has not been associated with congenital ichthyosis was manifested by raised blood urea nitrogen and creatinine levels, and a reduced creatinine clearance. The clinical and genetic features of this syndrome are discussed in relationship to the other congenital ichthyotic syndromes.

A presentation of a 3-year-old girl with a congenital hemidysplasia of the left side together with ichtyosiform erythroderma, the so-called CHILD-syndrome. A short review of the syndrome is given.

The Sjögren-Larsson syndrome (SLS) is characterized by congenital ichthyosis, spastic dior tetraplegia and mental retardation. The inheritance is autosomal recessive. All 36 patients with SLS alive in Sweden in 1980 were studied with regard to ichthyosis. A slight or moderate generalized hyperkeratosis, less pronounced in the face, was already present at birth. Collodion-like membranes were never seen. The ichthyosis developed to its full extent during infancy. It was sometimes slight but most often moderate. Three types occurred in various combinations. The skin changes were concentrated in the neck, flexures and lower abdomen, in which regions the scales were often dark. The non-scaly hyperkeratosis produced characteristic and easily visible skin markings. Generalized erythema was rare, especially in adults. The DNA synthesis of the epidermis and the production of a horny layer were increased. Hair and nails were normal, as also was the ability to sweat.

The late onset of normal keratinization after week 24 menstrual age (MA) of fetal life is the cause of considerable problems with the prenatal diagnosis of congenital ichthyosis. This paper summarizes the experiences with prenatal diagnosis in nine pregnancies at risk of congenital ichthyosis and one at risk of chondrodysplasia punctata, rhizomelic type. An important prerequisite--and the main problem--is the manifestation of the mutant genes early enough in fetal life to allow a safe exclusion. Continuous precocious keratinization of the interfollicular epidermis, hyperkeratosis, and/or specific markers of congenital ichthyosis such as various types of lipid inclusions had been expected. With a normal ultrastructure and development of fetal epidermis no evidence of ichthyosis was present in eight cases; all eight children were born healthy. Regional variations of the onset of keratinization of the interfollicular epidermis, observed in one of these eight fetuses as well as in one fetus at risk (but normal for) recessive dystrophic epidermolysis bullosa, posed considerable problems and might lead to a false-positive diagnosis. Examination after birth allowed one to localize these regions to areas close to the mamillae. Regional variations in addition to the well-known cranio-caudal gradient thus are normal findings: both children have normal skin. One fetus at risk of non-bullous congenital ichthyosiform erythroderma (type II) was involved without prenatal manifestation of interfollicular keratinization, specific markers, or increased numbers of cornified cells in the pilosebaceous follicles at 20 weeks MA. A slightly more irregular pattern of the horn cell contents was not regarded as sufficient evidence alone to indicate congenital ichthyosis. A severely affected boy was born in week 34 MA. Similarly the fetus at risk of chondrodysplasia punctata showed no skin abnormalities, neither at fetoscopy (week 22 MA) nor after abortion (week 24 MA) although based on other clinical features it was clearly affected. Thus, this genodermatosis cannot be diagnosed prenatally by its keratinization disturbances. In future cases, precocious keratinization and hyperkeratosis cannot be expected to be expressed before week 24 MA, and minor signs, such as irregularities of horn cell contents, have to be taken as an indication of involvement. Multiple biopsies are required, and a safe exclusion may be impossible before week 22 MA.

We describe two infants born with a collodion membrane; both were treated with a product containing 10% urea and 5% lactic acid and as a consequence were found to have a raised plasma urea concentration.

This is a report on a child with a syndrome characterized by an extensive congenital ichthyosiform eruption, neurosensory deafness and abnormally elevated serum steroid disulfates neonatally. When analysed by gas-liquid chromatography (glc) and gas chromatography-mass spectrometry (gc-ms) the following serum steroid disulfates were very high 5 days after birth: 5-androstene-3 beta,17 alpha-diol (56 micrograms/ml), 5-androstene-3 beta,17 beta-diol (25 micrograms/ml) and 5-pregnene-3 beta,20 alpha-diol (26 micrograms/ml). The values are about one hundred times higher than the reference values at this age. At the same time serum steroid monosulphate concentrations were normal. The patient had normal steroid sulfatase activity in skin biopsies, indicating that enzyme deficiency was not the reason for the high steroid disulfate concentrations. When serum steroid disulphatases were next analysed at 16 months of age they were normal. No hepatomegaly was observed but the other laboratory data support the hypothesis that the serum steroid disulphate concentrations were due to neonatal hepatography. Later, no indications of chronic liver disease were observed. These indications have not been described earlier in ichthyosiform erythrodermia and it is possible that the patient represents a new type of this rare disease.