ABSTRACT
RATIONALE: Ectrodactyly ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are caused by a TP63 gene disorder and have similar features. In the present article, a R319H mutation in TP63 is reported, and the correlation between genotype and phenotype is discussed based on the current case and previous literature. PATIENT CONCERNS: A 13-year-old Japanese boy had ectrodactyly in the right hand and left foot and syndactyly in the left and right foot, and tooth shape abnormalities. DIAGNOSES: Peripheral blood samples were obtained, and mutation analysis was performed. A heterozygous G>A transition at cDNA position 956 of the TP63 gene was found. The patient was diagnosed with ELA (EEC/LM/ADULT) syndrome based on his clinical features and mutation analysis results. INTERVENTIONS: The patient underwent surgery to correct the left foot malformation at 1 year of age and the right foot syndactyly at 11 years of age. OUTCOMES: No complications were observed after the first and second operations. He can walk comfortably after them, and no additional interventions will be planned in him. We continued to follow up with him up to the present. LESSONS: The concept of ELA syndrome, which is the original concept of combining 3 syndromes (EEC syndrome/LMS/ADULT syndrome) into a unique clinical entity, can help clinicians to better understand TP63-related syndromes and improve the differential diagnosis of these syndromes.
Subject(s)
Anodontia/blood , Breast/abnormalities , Cleft Palate/blood , Ectodermal Dysplasia/blood , Fingers/abnormalities , Hand Deformities, Congenital/blood , Lacrimal Duct Obstruction/blood , Limb Deformities, Congenital/blood , Nails, Malformed/blood , Pigmentation Disorders/blood , Transcription Factors/analysis , Tumor Suppressor Proteins/analysis , Adolescent , Anodontia/genetics , Cleft Palate/genetics , Ectodermal Dysplasia/genetics , Hand Deformities, Congenital/genetics , Humans , Japan , Lacrimal Duct Obstruction/genetics , Limb Deformities, Congenital/genetics , Male , Mutation/genetics , Nails, Malformed/genetics , Pigmentation Disorders/genetics , Transcription Factors/blood , Tumor Suppressor Proteins/bloodABSTRACT
Fetus papyraceus is the fetal death of one or more fetuses in a multiparous pregnancy. The surviving infants can experience extensive aplasia cutis in an H-shaped distribution over the flanks and abdomen as a consequence of the loss of their fetal sibling. We report the case of a monochorionic, diamniotic pregnancy complicated by a single fetal death at 13 weeks of gestational age. Aplasia cutis of the surviving twin was suggested in utero by three criteria: high amniotic and maternal alpha-fetoprotein, detectable acetylcholinesterase, and small abdominal circumference on prenatal ultrasound. This constellation of findings in the setting of fetus papyraceus can be an indicator of aplasia cutis in the surviving fetus.
Subject(s)
Abdomen/abnormalities , Acetylcholinesterase/metabolism , Amniotic Fluid/enzymology , Diseases in Twins/pathology , Ectodermal Dysplasia/diagnosis , Fetal Death , alpha-Fetoproteins/metabolism , Ectodermal Dysplasia/blood , Ectodermal Dysplasia/therapy , Female , Fetal Growth Retardation , Gestational Age , Humans , Infant, Newborn , Skin Diseases/pathologyABSTRACT
Cardio-facio-cutaneous (CFC) syndrome is a rare disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, cardiac malformations, as well as growth and developmental delay. Although some endocrine abnormalities have been reported in this syndrome, very little is known about CFC syndrome-related endocrine disorders. A 7.5-year-old boy was admitted to our endocrinology clinic with the complaint of short stature. He had a height of 103 cm [-4 standard deviation (SD)], a weight of 16 kg (<3(th) percentile, -1.7 SD), a facial appearance typical for the CFC syndrome, optic nerve hypoplasia and pulmonary stenosis. Genetic investigation revealed a heterozygous mutation in exon 3 of the MEK1 gene, c.389A>G (p. Y130C). During his long-term follow-up, the patient developed a variety of endocrine disorders including precocious puberty, growth hormone deficiency and hyperprolactinemia.
Subject(s)
Ectodermal Dysplasia/pathology , Failure to Thrive/pathology , Growth Disorders/pathology , Heart Defects, Congenital/pathology , Hyperprolactinemia/pathology , Puberty, Precocious/pathology , Child , Ectodermal Dysplasia/blood , Ectodermal Dysplasia/complications , Facies , Failure to Thrive/blood , Failure to Thrive/complications , Growth Disorders/blood , Growth Disorders/etiology , Heart Defects, Congenital/blood , Heart Defects, Congenital/complications , Humans , Hyperprolactinemia/blood , Hyperprolactinemia/etiology , Male , Prognosis , Puberty, Precocious/blood , Puberty, Precocious/etiologyABSTRACT
Johanson-Blizzard syndrome (JBS); (OMIM: 243800) presents with features of malabsorption and dysmorphic features with onset of symptoms in infantile age group. The disorder was first described in the year 1971 with report of the first Indian case in 2004. We discuss two rare phenotypes (hepatitis and anemia) in a molecularly confirmed case of JBS.
Subject(s)
Anus, Imperforate/diagnosis , Anus, Imperforate/genetics , Ectodermal Dysplasia/diagnosis , Ectodermal Dysplasia/genetics , Growth Disorders/diagnosis , Growth Disorders/genetics , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/genetics , Hypothyroidism/diagnosis , Hypothyroidism/genetics , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Mutation , Nose/abnormalities , Pancreatic Diseases/diagnosis , Pancreatic Diseases/genetics , Ubiquitin-Protein Ligases/genetics , Anemia , Anus, Imperforate/blood , Chromosomes, Human, Pair 15/genetics , Ectodermal Dysplasia/blood , Genes, Recessive/genetics , Genetic Testing , Genotype , Growth Disorders/blood , Hearing Loss, Sensorineural/blood , Hematologic Tests , Hepatitis , Humans , Hypothyroidism/blood , Infant , Intellectual Disability/blood , Male , Pancreatic Diseases/blood , PhenotypeSubject(s)
Anus, Imperforate/complications , Ectodermal Dysplasia/complications , Growth Disorders/complications , Hearing Loss, Sensorineural/complications , Hypothyroidism/complications , Intellectual Disability/complications , Nose/abnormalities , Pancreatic Diseases/complications , Pancytopenia/etiology , Vitamin B 12 Deficiency/etiology , Vitamin B 12/blood , Adult , Anus, Imperforate/blood , Ectodermal Dysplasia/blood , Growth Disorders/blood , Hearing Loss, Sensorineural/blood , Humans , Hypothyroidism/blood , Intellectual Disability/blood , Male , Pancreatic Diseases/blood , Pancytopenia/blood , Vitamin B 12 Deficiency/blood , Young AdultSubject(s)
Alopecia/diagnosis , Bone and Bones/abnormalities , Ectodermal Dysplasia/diagnosis , Hydrocortisone/blood , Hyperpigmentation/diagnosis , Lymphedema/diagnosis , Nail Diseases/diagnosis , Noonan Syndrome/diagnosis , Rothmund-Thomson Syndrome/diagnosis , Skin Neoplasms/diagnosis , Alopecia/blood , Ectodermal Dysplasia/blood , Female , Humans , Hyperpigmentation/blood , Lymphedema/blood , Nail Diseases/blood , Noonan Syndrome/blood , Rothmund-Thomson Syndrome/blood , Skin Neoplasms/blood , Young AdultSubject(s)
Abnormalities, Drug-Induced/etiology , Ectodermal Dysplasia/chemically induced , Maternal-Fetal Exchange , Methimazole/adverse effects , Adult , Child, Preschool , Ectodermal Dysplasia/blood , Ectodermal Dysplasia/genetics , Epilepsy/chemically induced , Face/abnormalities , Female , Fingers/abnormalities , Graves Disease/drug therapy , Humans , Methimazole/therapeutic use , Nails, Malformed/chemically induced , Pregnancy , Skin Abnormalities/chemically inducedSubject(s)
Copper/blood , Ectodermal Dysplasia/blood , Abnormalities, Multiple , Child , Ectodermal Dysplasia/complications , Hip Dislocation, Congenital/complications , Hip Dislocation, Congenital/diagnostic imaging , Humans , Hydronephrosis/complications , Hydronephrosis/diagnostic imaging , Ichthyosis/complications , Male , Osteoporosis/complications , Osteoporosis/diagnostic imaging , RadiographyABSTRACT
A female patient with congenital ectodermal dysplasia is described, who developed xanthoma tendinosum in her hands simulating rheumatoid arthritis. The serum lipids of this patient were normal. Both ectodermal dysplasia and xanthoma tendinosum in a normolipemic patient are rather uncommon and to our knowledge have not been previously reported in one and the same patient.