ABSTRACT
A description is presented of a rarely observed frontonasal dysplasia (DeMyer's syndrome) whose diagnosis confirmed by X-ray and ophthalmological examinations was based on demonstration of a wide midline cleft of the facial skeleton, hypertelorism of eyes, and coexisting severe and infrequently occurring in this syndrome deformity of lower extremities. The authors think that the cause of DeMyer's syndrome in this case should be sought in the action of many various harmful factors.
Subject(s)
Abnormalities, Multiple/diagnosis , Facial Bones/abnormalities , Nose/abnormalities , Humans , Infant, Newborn , Male , SyndromeABSTRACT
A case is reported of rarely observed skin changes in a girl aged 5 years. The changes resembled those observed in acute parapsoriasis (p. lichenoides et varioliformis of Mucha-Habermann). The diagnosis was established after finding characteristic polymorphic lesions in the form of papulae, necrotizing vesicles, ulcerations, desquamation of certain papulae typical of p. guttata, long-term persistence of the lesions and good general condition of the child. The lesions were situated on the trunk, and in a lower degree on the face and extremities. Before the disease the girl hand contact with insecticides (Ovadofox) and detergents.
Subject(s)
Parapsoriasis/diagnosis , Acute Disease , Child, Preschool , Dermatitis, Contact/diagnosis , Detergents/adverse effects , Diagnosis, Differential , Female , Humans , Insecticides/adverse effects , Parapsoriasis/chemically induced , Vasculitis, Leukocytoclastic, Cutaneous/diagnosisABSTRACT
A rare case is presented of xanthogranuloma juvenile (McDonagh disease) in a four-month-old infant. The diagnosis was based on a characteristic appearance of skin rash, good general condition, absence of changes in laboratory investigations and typical histological pattern. In the differential diagnosis other conditions with similar skin lesions were considered (xanthoma tuberosum, eruptivum, disseminatum and planum).
Subject(s)
Xanthogranuloma, Juvenile/diagnosis , Diagnosis, Differential , Histiocytosis, Langerhans-Cell/diagnosis , Humans , Infant , MaleSubject(s)
Urticaria Pigmentosa/diagnosis , Female , Humans , Infant , Terminology as Topic , Urticaria Pigmentosa/drug therapyABSTRACT
A new form of ectodermal dysplasia was observed in two siblings, offspring of healthy non-consanguineous parents. The main findings in both children are: hypodontia, abnormally shaped teeth, scalp hypotrichosis, pili annulati, follicular hyperkeratosis on the trunk and limbs, intensified delineation and reticular hyperpigmentation of the nape, and hyperopia; one of the siblings also has astigmatism. As both patients have normal nails and are euhidrotic, this is an ectodermal dysplasia of the pilodental subgroup. The cause is probably genetic and autosomal-recessive inheritance is most likely.
Subject(s)
Ectodermal Dysplasia/genetics , Child , Ectodermal Dysplasia/classification , Ectodermal Dysplasia/diagnosis , Female , Hair/pathology , Humans , Hyperopia/genetics , Male , Syndrome , Tooth Abnormalities/geneticsSubject(s)
Fetal Alcohol Spectrum Disorders/diagnosis , Child, Preschool , Female , Humans , PregnancySubject(s)
Acute Kidney Injury/complications , Stevens-Johnson Syndrome/complications , Child , Humans , MaleSubject(s)
Hypophosphatemia, Familial/diagnosis , Phosphates/deficiency , Adolescent , Child , Dwarfism/diagnosis , Female , Humans , Hypophosphatemia, Familial/etiology , Male , SyndromeABSTRACT
The authors describe three cases of familial acrocephalosyndactyly (ACS) in two boys (9 and 3 years of age) and in their 7.5-year old sister. In addition, irregularities in skull and limbs were found in the 46-year old father as well as in two other children, i.e., two girls, 14 and 4 years of age. The mother (46 years-old) and the remaining four 4 boys (12-, 9-, and 7-years-old), as well as the youngest child, a son, 1-year-old) did not show any deviations. The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet. In addition, deformed chest, weight and height deficiency, significant mental retardation, as well as, in the boys, true cryptorchidism were found. Radiological examination showed, in all affected members of the family, intensified digitate impressions within the whole fornix of the skull, large and deep sella turcica, underdeveloped frontal bone and upper jaw bone, untypical syndactyly of hands and feet, and the partial bifid of distal phalanges of the great toes, not described previously in the Saethre-Chotzen syndrome. In the differential diagnosis, other forms of ACS, i.e., Apert, Vogt, Pfeiffer, Summitt, and Herrmann-Opitz syndromes, were not found. Manifestation of the described symptoms transferred autosomally, dominantly, and with a similar degree of expression in 6 of 11 members of one family, leads us to think that they are the consequence of a fresh mutation revealed in the father.
