One case of Pseudo-Pseudohypoparathyroidism is reported with the characteristic body features such as short stature, round face, metacarpal sign and multiple exostoses.
Exostoses, Multiple Hereditary ; Pseudopseudohypoparathyroidism

A case of pseudopseudohypoparathyroidism is reported. The patient, a 23-year-old man, has suffered from generalized tonic-clonic seizure for 16 years and gait disturbance for 4 years. He has the phenotypic features of Albright's hereditary osteodystrophy. But the levels of parathyroid hormone, serum calcium and phosphorus are all normal. The case is presented with the reviewed of the literature.
Calcium ; Gait ; Humans ; Parathyroid Hormone ; Phosphorus ; Pseudopseudohypoparathyroidism* ; Seizures ; Young Adult

Albright's hereditary osteodystrophy is an inherited syndrome that encompasses endocrinologic anomaly of pseudohypoparathyroidim or less commonly, pseudo-pseudohypoparathyroidism and various physical stigmata such as mental retardation, short stature, skeletal anomaly of the hands, abnormal dentition, round facies, and osteoma cutis. Primary osteoma cutis in this syndrome presents at birth or in early infancy, preceding most of the other manifestations. This case is a typical presentation with osteoma cutis as the sole initial manifestation. Rather unfamiliar to dermatologists, Albright's hereditary osteodystrophy still deserves to be included in the differentials when an isolated case of osteoma cutis presents in a young child.
Child ; Christianity ; Dentition ; Facies ; Hand ; Humans ; Intellectual Disability ; Osteoma* ; Parturition ; Pseudopseudohypoparathyroidism

A 36 year-old man and his 6 month-old daughter presented with multiple, slightly depressed, skin-colored, hard nodules and plaques on the abdomen, back, and both extremities. They also showed abnormal physical appearance, including short stature and neck, round face, and short digits, which suggested Albright's hereditary osteodystrophy (AHO). Histopathologically, various sized bony spicules were present in the dermis. The laboratory results showed normal serum calcium, phosphorus and parathyroid hormone levels. On the basis of clinical, laboratory and histologic findings, we diagnosed these cases as Albright's hereditary osteodystrophy with cutaneous ossification occurring in pseudopseudohypoparathyroidism.
Abdomen ; Calcium ; Dermis ; Extremities ; Fibrous Dysplasia, Polyostotic ; Neck ; Nuclear Family ; Parathyroid Hormone ; Phosphorus ; Pseudopseudohypoparathyroidism

A 36 year-old man and his 6 month-old daughter presented with multiple, slightly depressed, skin-colored, hard nodules and plaques on the abdomen, back, and both extremities. They also showed abnormal physical appearance, including short stature and neck, round face, and short digits, which suggested Albright's hereditary osteodystrophy (AHO). Histopathologically, various sized bony spicules were present in the dermis. The laboratory results showed normal serum calcium, phosphorus and parathyroid hormone levels. On the basis of clinical, laboratory and histologic findings, we diagnosed these cases as Albright's hereditary osteodystrophy with cutaneous ossification occurring in pseudopseudohypoparathyroidism.
Abdomen ; Calcium ; Dermis ; Extremities ; Fibrous Dysplasia, Polyostotic ; Neck ; Nuclear Family ; Parathyroid Hormone ; Phosphorus ; Pseudopseudohypoparathyroidism

Pseudohypoparathyroidism (PHP) is a rare endocrine syndrome, which is characterized by Albright's hereditary osteodystrophy (AHO). Pseudopseudohypoparathyroidism (PPHP) presents with AHO features, but does not show clinical symptoms or the same laboratory finding as hypoparathyroidism. A 54 aged woman visited our department with lower abdominal pain. She had a history of a total hysterectomy due to persistent uterine bleeding 30 years previously. She showed abnormal physical findings, including a round face, short stature and brachydactyly. Her hormonal data were within normal limits, as follows: PTH 40.72 pg/mL, calcium 8.6 mg/dL, phosphorus 4.0 mg/dL and 24 hour urine cAMP 3.2 nmol/mg. On a pituitary challenge test, the basal levels and response rates of FSH and LH were low, and a sella CT scan showed partially empty sella. Herein is reported a case of PPHP, with partial empty sella, with a review of the literature
Abdominal Pain ; Brachydactyly ; Calcium ; Female ; Humans ; Hypoparathyroidism ; Hysterectomy ; Phosphorus ; Pseudohypoparathyroidism ; Pseudopseudohypoparathyroidism* ; Tomography, X-Ray Computed ; Uterine Hemorrhage

Pseudohypoparathyroidism (PHP) is a rare endocrine syndrome, which is characterized by Albright's hereditary osteodystrophy (AHO). Pseudopseudohypoparathyroidism (PPHP) presents with AHO features, but does not show clinical symptoms or the same laboratory finding as hypoparathyroidism. A 54 aged woman visited our department with lower abdominal pain. She had a history of a total hysterectomy due to persistent uterine bleeding 30 years previously. She showed abnormal physical findings, including a round face, short stature and brachydactyly. Her hormonal data were within normal limits, as follows: PTH 40.72 pg/mL, calcium 8.6 mg/dL, phosphorus 4.0 mg/dL and 24 hour urine cAMP 3.2 nmol/mg. On a pituitary challenge test, the basal levels and response rates of FSH and LH were low, and a sella CT scan showed partially empty sella. Herein is reported a case of PPHP, with partial empty sella, with a review of the literature
Abdominal Pain ; Brachydactyly ; Calcium ; Female ; Humans ; Hypoparathyroidism ; Hysterectomy ; Phosphorus ; Pseudohypoparathyroidism ; Pseudopseudohypoparathyroidism* ; Tomography, X-Ray Computed ; Uterine Hemorrhage

Albright's hereditary osteodystrophy (AHO) has a broad spectrum of physical findings, including short stature, flattened nasal bridge, round facies, obesity, skeletal anomalies of the hands with brachydactyly, osteoma cutis, mental retardation, dental defects, cataracts, and calcification in the basal ganglia. It also includes endocrinologic abnormalities such as pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Primary osteoma cutis, which can precede other physical findings of AHO, might be a diagnostic clue for AHO. Therefore, close follow-up and regular laboratory tests should be done to detect the early development of AHO in young children with primary osteoma cutis. Early diagnosis and treatment of AHO can prevent irreversible mental retardation and developmental delay.
Basal Ganglia ; Bone Diseases, Metabolic ; Brachydactyly ; Cataract ; Child ; Early Diagnosis ; Facies ; Fibrous Dysplasia, Polyostotic ; Hand ; Humans ; Intellectual Disability ; Obesity ; Ossification, Heterotopic ; Osteoma ; Pseudohypoparathyroidism ; Pseudopseudohypoparathyroidism ; Skin Diseases, Genetic

In Albright's hereditary osteodystrophy (AHO) including the syndromes of pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP), multiple areas of intracutaneous ossification are often encountered. The characteristic features are short stature, round face, short neck, obesity, cutaneous ossifications, and various skeletal anomalies including short metacarpal and metatarsal bones, curve of radius, and brachydactyly. The patient was a 10-month-old male infant. He presented slightly depressed erythematous hard plaques on the left upper chest and left thigh. We had taken biopsies from both skin lesions, confirming cutaneous ossification or bone formation. He also had the characteristic features of AHO. He had a history of admission due to patent ductus arteriosus and atrial septal defect. The laboratory results showed slightly decreased calcium, increased phosphorus and PTH levels. The patient received no specific corrective measures because his calcium and phosphorus levels were not far from normal values until newly developed similar skin lesions appeared.
Biopsy ; Brachydactyly ; Calcium ; Ductus Arteriosus, Patent ; Heart Septal Defects, Atrial ; Humans ; Infant ; Male ; Metatarsal Bones ; Neck ; Obesity ; Osteogenesis ; Phosphorus ; Pseudohypoparathyroidism* ; Pseudopseudohypoparathyroidism ; Radius ; Reference Values ; Skin ; Thigh ; Thorax

Primary osteoma cutis is characterized by the formation of normal bone tissue in the dermis or subcutis without any underlying tissue abnormality or pre-existing calcification. This illness is associated with Albright hereditary osteodystrophy (AHO), which is characterized by such physical features as a short stature, round face, obesity, brachydactyly and osteoma cutis. Pseudohypoparathyroidism (PHP) is an inherited metabolic disorder that's characterized by resistance to parathyroid hormone, and PHP is present in most AHO patients. An AHO phenotype without hormonal resistance is called pseudopseudohypoparathyroidism (PPHP). Osteoma cutis is less common in patients with PPHP than in patients with PHP. We present here a case of osteoma cutis as the cardinal manifestation of AHO associated with PPHP. Osteoma cutis is an important sign of AHO and its significance should not be overlooked, even if the patient has normal values on the serum biochemical tests.
Alkenes ; Bone and Bones ; Bone Diseases, Metabolic ; Brachydactyly ; Dermis ; Fibrous Dysplasia, Polyostotic ; Humans ; Obesity ; Ossification, Heterotopic ; Osteoma ; Parathyroid Hormone ; Phenotype ; Pseudohypoparathyroidism ; Pseudopseudohypoparathyroidism ; Reference Values ; Skin Diseases, Genetic