EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.

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.

High altitude koilonychia.

OBJECTIVE: To study the incidence of koilonychia in the residents of high altitude. METHODS: Nails of all the patients attending the Medical Outpatient Department (MOPD) of a multispeciality medical camp at Kaza in Himalayas (height 12,500 feet above sea level) were looked for the presence of koilonychia and were included for the study. Those residing below 10,000 feet were excluded from the study. A detailed history was taken and a thorough physical examination was made in each. Routine laboratory investigations were undertaken. Serum ferritin levels were estimated in seven. RESULTS: Koilonychia was present in 6.99% of the patients (67 out of the 986). There were 29 males and 37 females within the age range of 37 to 78 years. Sixty four were high landers since generations and three were high landers from 2nd generation onward. All were right handed. Koilonychia was in the nails of both upper and lower limbs in 14, in the nails of upper limbs in 49 and in the nails of lower limbs in 18. In the upper limbs it was in all the fingers in 42, in thumb, index and middle fingers of right hand in 12 and of left hand in nine. In the lower limbs it was bilateral in the first three toes in nine. Chronic obstructive pulmonary disease was in 29, ulcer like dyspepsia in 24, osteoarthritis of knee in 17, hypertension in 14, pulmonary tuberculosis in eight, anxiety neurosis in five, pneumoconiosis in two and squamous cell carcinoma of lung in one. The haemoglobin in all was normal and serum ferritin level of the seven patients estimated was also normal. CONCLUSIONS: Koilonychia at high altitude is present in 6.99%. It is due to retardation of nail plate growth and is more common in upper limbs.