Wrinkly skin syndrome (WSS) is a rare genetic condition characterized by sagging, wrinkled skin, low skin elasticity, and delayed fontanel (soft spot) closure along with a range of other symptoms. The disorder exhibits an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene, leading to abnormal glycosylation events. There are only about 30 known cases of WSS as of 2010. Given its rarity and symptom overlap to other dermatological conditions, reaching an accurate diagnosis is difficult and requires specialized dermatological testing. Limited treatment options are available but long-term prognosis is variable from patient-to-patient, on the basis of individual case studies. Some skin symptoms recede with increasing age while progressive neurological advancement of the disorder causes seizures and mental deterioration later in life for some patients. Symptoms and signs
The predominant clinical symptoms of wrinkly skin syndrome are wrinkled and inelastic skin over the face, backs of hands/fingers, tops of feet, and abdomen, delayed closure of the fontanel (babys soft spot), and increased palmar and plantar creases in the hands and feet, respectively.Patients may experience a wide variety of symptoms (see table). The assortment of symptoms displayed and symptom severity (particularly  growth and developmental delays) vary from patient to patient. Microscopic analysis of epidermal samples of a four-month year old with WSS revealed an irregular pattern of elastic fiber distribution. Fewer elastic fibers are present in the papillary dermis and fragmented elastic fibers in the reticular dermis are observed.
By contrast, in 1990, only 1,211 cases were reported.In early May 2010, a case of diphtheria was diagnosed in Port-au-Prince, Haiti, after the devastating 2010 Haiti earthquake. The 15-year-old male patient died while workers searched for antitoxin.In 2013, three children died of diphtheria in Hyderabad, India.In early June 2015, a case of diphtheria was diagnosed at Vall dHebron University Hospital in Barcelona, Spain. The 6-year-old child who died of the illness had not been previously vaccinated due to parental opposition to vaccination. It was the first case of diphtheria in the country since 1986 as reported by "El Mundo" or from 1998, as reported by WHO.In March 2016, a 3-year-old girl died of diphtheria in the University Hospital of Antwerp, Belgium.In June 2016, a 3-year-old, 5-year-old, and 7-year-old girl died of diphtheria in Kedah, Malacca, and Sabah, Malaysia.In January 2017, more than 300 cases were recorded in Venezuela.In 2017, outbreaks occurred in a Rohingya refugee camp in Bangladesh, and in children unvaccinated due to the Yemeni Civil War.In November and December 2017, an outbreak of diphtheria occurred in Indonesia with more than 600 cases found and 38 fatalities.In November 2019, two cases of diphtheria occurred in the Lothian area of Scotland. Additionally, in November 2019 an unvaccinated 8-year-old boy died of diphtheria in Athens, Greece.In July 2022, two cases of diphtheria occurred in northern New South Wales, Australia. References
Further reading
Holmes, R .K. (2005). "Diphtheria and other corynebacterial infections". In Kasper;  et al. (eds.). Harrisons Principles of Internal Medicine (16th ed.). New York: McGraw-Hill. ISBN 978-0-07-139140-5.